MCID: MRF001
MIFTS: 70

Marfan Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Marfan Syndrome

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 35MedlinePlus, 65UMLS, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Marfan Syndrome:

Name: Marfan Syndrome 49 10 11 68 21 45 22 23 47 12 51 67 36 35 65
Mfs 68 23 51 67
Marfan's Syndrome 10 23 24
Marfan Syndrome Type 1 45 67
 
Arachnodactyly 68 47
Marfanoid Hypermobility Syndrome 65
Contractural Arachnodactyly 45
Mfs1 67

Characteristics:

Orphanet epidemiological data:

51
marfan syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: any age

HPO:

61
marfan syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 154700
Disease Ontology10 DOID:14323
ICD1027 Q87.4, Q87.40
ICD9CM29 759.82
MeSH36 D008382
NCIt42 C34807
Orphanet51 558
UMLS via Orphanet66 C0024796
ICD10 via Orphanet28 Q87.4
MESH via Orphanet37 D008382
MedGen34 C0024796
UMLS65 C0024796, C0268365

Summaries for Marfan Syndrome

About this section
MedlinePlus:35 Marfan syndrome is a disorder that affects connective tissue. connective tissues are proteins that support skin, bones, blood vessels, and other organs. one of these proteins is fibrillin. a problem with the fibrillin gene causes marfan syndrome. marfan syndrome can be mild to severe, and the symptoms can vary. people with marfan syndrome are often very tall, thin, and loose jointed. most people with marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. they may also have problems with their bones, eyes, skin, nervous system, and lungs. there is no single test to diagnose marfan syndrome. your doctor may use your medical history, family history, and a physical exam to diagnose it. marfan syndrome has no cure, but treatments can help delay or prevent complications. treatments include medicines, surgery, and other therapies. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary: Marfan Syndrome, also known as mfs, is related to acute generalized exanthematous pustulosis and hemangioma, and has symptoms including striae distensae, arachnodactyly and muscular hypotonia. An important gene associated with Marfan Syndrome is FBN1 (Fibrillin 1), and among its related pathways are NTHi-Induced Signaling and TGF-beta receptor signaling activates SMADs. Affiliated tissues include heart, bone and eye, and related mouse phenotypes are tumorigenesis and respiratory system.

Genetics Home Reference:23 Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

NIH Rare Diseases:45 Marfan syndrome is a disorder of the connective tissue. connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). it is caused by mutations in the fbn1 gene, which provides instructions for making a protein called fibrillin-1. marfan syndrome is inherited in an autosomal dominant pattern. at least 25% of cases are due to a new mutation. treatment is symptomatic and supportive. last updated: 2/9/2016

OMIM:49 A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical... (154700) more...

UniProtKB/Swiss-Prot:67 Marfan syndrome: A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.

Wikipedia:68 Marfan syndrome (MFS) is a genetic disorder of connective tissue. The degree that people are affected... more...

GeneReviews summary for NBK1335

Related Diseases for Marfan Syndrome

About this section

Diseases in the Marfan Syndrome family:

Marfan Syndrome Type 2

Diseases related to Marfan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 565)
idRelated DiseaseScoreTop Affiliating Genes
1acute generalized exanthematous pustulosis30.4TGFBR1, TGFBR2
2hemangioma30.3ELN, FBN1, TGFB1
3keratoconus30.0ELN, TGFB1
4ehlers-danlos syndrome30.0ELN, MMP2
5pulmonary hypertension29.9DCN, TGFB1
6ectopia lentis, familial26.4ACTA2, BMP6, CBS, COL1A2, DCN, ELN
7marfan syndrome type 212.5
8neonatal marfan syndrome12.4
9marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections12.3
10loeys-dietz syndrome 211.4
11mycosis fungoides11.3
12hepatitis10.5
13contractural arachnodactyly, congenital10.5
14mass syndrome10.4
15pneumothorax, primary spontaneous10.4
16homocystinuria, b6-responsive and nonresponsive types10.4
17endotheliitis10.4
18adenosine monophosphate deaminase deficiency erythrocyte type10.4TGFBR1, TGFBR2
19retinitis10.4
20genetic prion diseases10.4FBN1, TGFB1
21isolated growth hormone deficiency10.4CBS, FBN1
22lymphoma10.4
23familial vesicoureteral reflux10.4DCN, FBN1
24popliteal pterygium syndrome 110.3FBN1, FBN2
25neuronitis10.3
26breast cancer10.3
27leukemia10.3
28trigeminal nerve disease10.3FBN1, FBN2, TGFBR2
29aneurysm10.3
30shprintzen-goldberg syndrome10.3
31ectopia lentis, isolated, autosomal recessive10.3
32aortic aneurysm, familial thoracic 110.3
33microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma10.3
34lujan-fryns syndrome10.3
35megalocornea 1, x-linked10.3
36megalocornea10.3
37connective tissue disease10.3
38familial thoracic aortic aneurysm and dissection10.3
39mounier-kuhn syndrome10.3
40pectus carinatum10.3
41cutis laxa, ad10.3ELN, FBN1
42lung cancer10.2
43prostatitis10.2
44adenocarcinoma10.2
45elastoderma10.2TGFB1, TGFBR1, TGFBR2
46nephronophthisis familial adult spastic quadriparesis10.2DCN, TGFB1
47idiopathic scoliosis10.2COL1A2, FBN1, FBN2
48diabetic neuropathy10.2TGFB1, TGFBR1, TGFBR2
49noonan-like/multiple giant cell lesion syndrome10.2BMP6, FBN1
50hepatocellular carcinoma10.2

Graphical network of the top 20 diseases related to Marfan Syndrome:



Diseases related to marfan syndrome

Symptoms for Marfan Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

154700

Clinical features from OMIM:

154700

Symptoms:

 51 (show all 48)
  • long limbs/dolichostenomelia
  • long hand/arachnodactyly
  • flat foot
  • striae
  • aortic root dilatation/dilation/aneurysm
  • hypotonia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • autosomal dominant inheritance
  • tall stature/gigantism/growth acceleration
  • marfanoid morphotype
  • asthenia/fatigue/weakness
  • narrow face
  • flat cheek bones/malar hypoplasia
  • dental malocclusion
  • visual loss/blindness/amblyopia
  • myopia
  • high vaulted/narrow palate
  • pectus excavatum
  • scoliosis
  • coxa profunda/acetabular protrusion
  • arterial aneurism (excluding aorta)
  • dural ectasia/
  • sleep and vigilance disorders
  • articular/joint pain/arthralgia
  • hyperextensible joints/articular hyperlaxity
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • dolichocephaly/scaphocephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glaucoma
  • flat cornea
  • lens dislocation/luxation/subluxation/ectopia lentis
  • retinal detachment
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • kyphosis
  • inguinal/inguinoscrotal/crural hernia
  • thoracic/chest pain
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • endocardium anomalies/fibroelastosis/endocarditis
  • aortic dissection
  • heart/cardiac failure
  • arterial rupture
  • meningocele
  • hyperactivity/attention deficit
  • myalgia/muscular pain
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • restricted joint mobility/joint stiffness/ankylosis
  • sprain/twisted joint

HPO human phenotypes related to Marfan Syndrome:

(show all 94)
id Description Frequency HPO Source Accession
1 striae distensae hallmark (90%) HP:0001065
2 arachnodactyly hallmark (90%) HP:0001166
3 muscular hypotonia hallmark (90%) HP:0001252
4 disproportionate tall stature hallmark (90%) HP:0001519
5 pes planus hallmark (90%) HP:0001763
6 skeletal muscle atrophy hallmark (90%) HP:0003202
7 dilatation of the ascending aorta hallmark (90%) HP:0005111
8 narrow face typical (50%) HP:0000275
9 visual impairment typical (50%) HP:0000505
10 myopia typical (50%) HP:0000545
11 dental malocclusion typical (50%) HP:0000689
12 pectus excavatum typical (50%) HP:0000767
13 joint hypermobility typical (50%) HP:0001382
14 sleep disturbance typical (50%) HP:0002360
15 aneurysm typical (50%) HP:0002617
16 scoliosis typical (50%) HP:0002650
17 arthralgia typical (50%) HP:0002829
18 protrusio acetabuli typical (50%) HP:0003179
19 decreased body weight typical (50%) HP:0004325
20 hypoplasia of the zygomatic bone typical (50%) HP:0010669
21 dural ectasia typical (50%) HP:0100775
22 cleft palate occasional (7.5%) HP:0000175
23 dolichocephaly occasional (7.5%) HP:0000268
24 micrognathia occasional (7.5%) HP:0000347
25 glaucoma occasional (7.5%) HP:0000501
26 retinal detachment occasional (7.5%) HP:0000541
27 ectopia lentis occasional (7.5%) HP:0001083
28 limitation of joint mobility occasional (7.5%) HP:0001376
29 congestive heart failure occasional (7.5%) HP:0001635
30 abnormality of the aortic valve occasional (7.5%) HP:0001646
31 meningocele occasional (7.5%) HP:0002435
32 aortic dissection occasional (7.5%) HP:0002647
33 kyphosis occasional (7.5%) HP:0002808
34 myalgia occasional (7.5%) HP:0003326
35 hernia of the abdominal wall occasional (7.5%) HP:0004299
36 abnormality of the endocardium occasional (7.5%) HP:0004306
37 reduced bone mineral density occasional (7.5%) HP:0004349
38 arterial dissection occasional (7.5%) HP:0005294
39 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
40 flat cornea occasional (7.5%) HP:0007720
41 chest pain occasional (7.5%) HP:0100749
42 exotropia rare (5%) HP:0000577
43 esotropia rare (5%) HP:0000565
44 dural ectasia HP:0100775
45 medial rotation of the medial malleolus HP:0008132
46 increased axial globe length HP:0007800
47 hypoplasia of the iris HP:0007676
48 premature calcification of mitral annulus HP:0005136
49 pulmonary artery dilatation HP:0004927
50 incisional hernia HP:0004872
51 spondylolisthesis HP:0003302
52 decreased muscle mass HP:0003199
53 protrusio acetabuli HP:0003179
54 premature osteoarthritis HP:0003088
55 genu recurvatum HP:0002816
56 kyphoscoliosis HP:0002751
57 aortic dissection HP:0002647
58 ascending aortic aneurysm HP:0002631
59 aortic root dilatation HP:0002616
60 pneumothorax HP:0002107
61 emphysema HP:0002097
62 hammertoe HP:0001765
63 pes planus HP:0001763
64 pes cavus HP:0001761
65 tricuspid valve prolapse HP:0001704
66 aortic regurgitation HP:0001659
67 mitral regurgitation HP:0001653
68 congestive heart failure HP:0001635
69 mitral valve prolapse HP:0001634
70 overgrowth HP:0001548
71 joint hypermobility HP:0001382
72 flexion contracture HP:0001371
73 arachnodactyly HP:0001166
74 ectopia lentis HP:0001083
75 striae distensae HP:0001065
76 decreased subcutaneous fat HP:0001002
77 pectus carinatum HP:0000768
78 pectus excavatum HP:0000767
79 dental crowding HP:0000678
80 myopia HP:0000545
81 retinal detachment HP:0000541
82 cataract HP:0000518
83 glaucoma HP:0000501
84 downslanted palpebral fissures HP:0000494
85 deeply set eye HP:0000490
86 micrognathia HP:0000347
87 retrognathia HP:0000278
88 long face HP:0000276
89 narrow face HP:0000275
90 malar flattening HP:0000272
91 dolichocephaly HP:0000268
92 high palate HP:0000218
93 narrow palate HP:0000189
94 tall stature HP:0000098

Drugs & Therapeutics for Marfan Syndrome

About this section

Drugs for Marfan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PerindoprilapprovedPhase 4, Phase 344107133-36-8107807
Synonyms:
(2S)-2-[(1S)-1-Carbethoxybutylamino]-1-oxopropyl-(2S,3aS,7aS)-perhydroindole-2-carboxylic acid
(2S,3AS,7as)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid
(2S,3aS,7aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxopentan-2-yl]amino]propanoyl]-2,3,3a,4,5,6,7,7a-octahydroindole-2-carboxylic acid
(2S,3aS,7aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid
82834-16-0
82834-16-0 (Parent)
99149-83-4
AC1L32S9
ACEON
Aceon
BIDD:GT0786
BRD-K92731339-227-02-3
BSPBio_003206
C07706
C19H32N2O5
CHEBI:8024
CHEMBL1581
CID107807
Coverene Cor
Coverex
Coversum
Coversyl
D03753
DB00790
DW-7950
 
KBio2_002494
KBio2_005062
KBio2_007630
KBio3_002426
KBioGR_001190
KBioSS_002502
LS-178402
MLS002154153
McN-A-2833
MolPort-005-935-307
PERINDOPRIL
Perindopril (USAN/INN)
Perindopril Erbumine
Perindoprilum
Prestarium
S-9490
SED-9490
SMR001233453
SPBio_001216
Spectrum2_001108
Spectrum3_001683
Spectrum4_000775
Spectrum5_001689
Spectrum_001948
cpd with unspecified MF
ethyl N-{(2S)-1-[(2S,3aS,7aS)-2-carboxyoctahydro-1H-indol-1-yl]-1-oxopropan-2-yl}-L-norvalinate
2
AtenololapprovedPhase 4, Phase 3, Phase 29929122-68-72249
Synonyms:
( inverted question mark)-Atenolol
(+-)-4-(2-Hydroxy-3-isopropylaminopropoxy)phenylacetamide
(+-)-Atenolol
(+/-)-4-[2-Hydroxy-3-[(1-methylethyl)amino]propoxy]benzeneacetamide
(1)-2-(4-(2-Hydroxy-3-(isopropylamino)propoxy)phenyl)acetamide
(?)-Atenolol
1-p-Carbamoylmethylphenoxy-3-isopropylamino-2-propanol
2-(4-(2-Hydroxy-3-isopropylaminopropoxy)phenyl)acetamid
2-(4-{2-hydroxy-3-[(propan-2-yl)amino]propoxy}phenyl)acetamide
2-(p-(2-Hydroxy-3-(isopropylamino)propoxy)phenyl)acetamide
2-[4-(2-Hydroxy-3-isopropylaminopropoxy)phenyl]acetamide
2-[4-({2-hydroxy-3-[(1-methylethyl)amino]propyl}oxy)phenyl]acetamide
2-[4-[2-hydroxy-3-(propan-2-ylamino)propoxy]phenyl]acetamide
2-{4-[2-hydroxy-3-(propan-2-ylamino)propoxy]phenyl}acetamide
29122-68-7
4-(2-Hydroxy-3-((1-methylethyl)amino)propoxy)benzeneacetamide
4-[2 -Hydroxy-3 -(isopropylamino)-propoxy]phenylacetamide
4-[2'-Hydroxy-3'-(isopropylamino)propoxy]phenylacetamide
60966-51-0
A 7655
A7655_SIGMA
AC-11142
AC1L1D99
AC1Q1QBX
AKOS005111050
ARONIS23884
Acetamide,2-(p-(2-hydroxy-3-(isopropylamino)propoxy)phenyl)
Aircrit
Alinor
Altol
Anselol
Antipressan
Apo-Atenolol
Atcardil
Atecard
Atehexal
Atenblock
Atendol
Atenet
Ateni
Atenil
Atenol
Atenol 1A Pharma
Atenol 1A pharma
Atenol AL
Atenol Acis
Atenol Atid
Atenol CT
Atenol Cophar
Atenol Fecofar
Atenol GNR
Atenol Gador
Atenol Genericon
Atenol Heumann
Atenol MSD
Atenol NM Pharma
Atenol Nordic
Atenol PB
Atenol Quesada
Atenol Stada
Atenol Tika
Atenol Trom
Atenol Von CT
Atenol acis
Atenol ct
Atenol von ct
Atenol-Mepha
Atenol-Ratiopharm
Atenol-Wolff
Atenol-ratiopharm
Atenolin
Atenolol
Atenolol (JAN/USP)
Atenolol (JP15/USP/INN)
Atenolol [USAN:BAN:INN:JAN]
Atenolol [USAN:INN:BAN:JAN]
Atenololum
Atenololum [INN-Latin]
Atenomel
Atereal
Aterol
BB_SC-1519
BIM-0050109.0001
BRD-A20239487-001-02-5
BRN 2739235
BSPBio_002915
Betablok
Betacard
Betasyn
Betatop GE
Betatop Ge
Blocotenol
Blokium
CCRIS 4196
CHEBI:2904
CHEMBL24
CID2249
CPD000036768
Cardaxen
Cardiopress
Corotenol
Cuxanorm
D001262
D00235
DB00335
DivK1c_000057
Duraatenolol
Duratenol
 
EINECS 249-451-7
EINECS 262-544-7
EU-0100121
Evitocor
Farnormin
Felo-Bits
HMS1569L13
HMS1921H09
HMS2090I19
HMS2092D19
HMS500C19
HSDB 6526
Hipres
Hypoten
I01-3572
ICI 66,082
ICI 66082
ICI-66082
ICI66082
IDI1_000057
Ibinolo
InChI=1/C14H22N2O3/c1-10(2)16-8-12(17)9-19-13-5-3-11(4-6-13)7-14(15)18/h3-6,10,12,16-17H,7-9H2,1-2H3,(H2,15,18)
Internolol
Jenatenol
Juvental
KBio1_000057
KBio2_001844
KBio2_004412
KBio2_006980
KBio3_002415
KBioGR_000790
KBioSS_001844
L000116
LS-28557
LS-9707
Lo-Ten
Lo-ten
Lopac0_000121
Loten
Lotenal
MLS000069622
MLS001066372
MLS001074163
MLS001304038
MolPort-001-792-717
Myocord
NCGC00015007-07
NCGC00015007-13
NCGC00024566-03
NCGC00024566-04
NCGC00024566-05
NCGC00024566-06
NCGC00024566-07
NINDS_000057
Neatenol
Normalol
Normiten
Noten
Oprea1_448775
Oraday
Ormidol
Panapres
Plenacor
Premorine
Prenolol
Prenormine
Prinorm
SAM002564193
SMR000036768
SPBio_001482
SPECTRUM1501127
STK528649
Scheinpharm Atenol
Seles Beta
Seles beta
Selobloc
Serten
Servitenol
Spectrum2_001411
Spectrum3_001448
Spectrum4_000435
Spectrum5_001509
Spectrum_001364
Stermin
Tenidon
Teno-Basan
Teno-basan
Tenobloc
Tenoblock
Tenolol
Tenoprin
Tenoretic
Tenormin
Tenormin (TN)
Tenormine
Tenormine [French]
Tensimin
Tensotin
Tredol
UNII-50VV3VW0TI
Unibloc
Uniloc
Vascoten
Vericordin
Wesipin
Xaten
atenolol
benzeneacetamide, 4-[2'-hydroxy-3
duratenol
3
VerapamilapprovedPhase 411752-53-92520
Synonyms:
(+-)-Verapamil
(+/-)-VERAPAMIL
(1)-3-(3,4-Dimethoxyphenyl)-6-((5,6-dimethoxyphenethyl)methylamino)hexane-3-carbonitrile
2-(3,4-Dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methyl-amino]-2-(1-methylethyl) pentanenitrile
2-(3,4-dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methylamino]-2-propan-2-ylpentanenitrile
2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino}-2-(propan-2-yl)pentanenitrile
5-((3,4-Dimethoxyphenethyl)methylamino)-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
5-[(3,4-Dimethoxyphenethyl)methylamino]-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
52-53-9
56949-77-0
AB00053495
AC-16016
AC1L1DV5
Akilen
Anpec
Apo-Verap
Arpamyl
Arpamyl LP
BPBio1_000268
BRD-A09533288-001-02-7
BRD-A09533288-003-05-6
BSPBio_000242
BSPBio_001513
BSPBio_002358
Berkatens
Bio-0754
Bio1_000425
Bio1_000914
Bio1_001403
Bio2_000233
Bio2_000713
C07188
C27H38N2O4
CCRIS 6749
CHEBI:9948
CHEMBL6966
CID2520
CP-16533-1
CP-165331
Calan
Calan SR
Calan Sr
Calan sr
Calaptin
Calaptin 240 SR
Calcan
Cardiabeltin
Cardiagutt
Cardibeltin
Cardioprotect
Caveril
Civicor
Civicor Retard
Coraver
Cordilox
Cordilox SR
Corpamil
Covera-HS
Covera-Hs
Covera-hs
D-365
D02356
DB00661
Dexverapamil
Dignover
Dilacoran
Dilacoran HTA
DivK1c_000399
Drosteakard
Durasoptin
EINECS 200-145-1
EINECS 260-462-6
Elthon
FT-0080127
Falicard
Finoptin
Flamon
Geangin
HMS1791L15
HMS1989L15
HMS2089H17
Harteze
Hexasoptin
Hexasoptin Retard
Hormitol
I06-0063
IDI1_000399
IDI1_033983
Ikacor
Ikapress
Inselon
Iproveratril
Isoptimo
Isoptin
Isoptin Retard
Isoptin SR
Isoptin sr
Isoptine
Isoptino
Isotopin
Izoptin
Jenapamil
KBio1_000399
KBio2_000233
KBio2_002343
KBio2_002801
KBio2_004911
KBio2_005369
KBio2_007479
KBio3_000465
KBio3_000466
KBio3_002823
KBioGR_000233
 
KBioGR_001372
KBioGR_002343
KBioSS_000233
KBioSS_002346
L001330
LS-174
Lekoptin
Lodixal
Lopac0_001237
Magotiron
Manidon
Manidon Retard
MolPort-000-721-258
NCGC00016083-14
NCGC00024710-04
NCGC00024710-05
NCGC00024710-06
NCGC00024710-07
NCGC00024710-08
NCGC00024710-09
NCI60_020143
NINDS_000399
NSC272366
NU-Verap
Novapamyl LP
Novo-Veramil
Nu-Verap
Ormil
Praecicor
Prestwick0_000141
Prestwick1_000141
Prestwick2_000141
Prestwick3_000141
Quasar
Rapam
Robatelan
SID104171262
SID124881789
SID124881790
SPBio_001820
SPBio_002181
STK538085
Securon
Spectrum2_001740
Spectrum4_000906
Spectrum5_001786
Tarka
UNII-CJ0O37KU29
Univer
Univex
VERAPAMIL
Vasolan
Vasomil
Vasopten
Vera-Sanorania
Verabeta
Veracaps SR
Veracim
Veracor
Verahexal
Veraloc
Veramex
Veramil
Verapamil
Verapamil (USAN/INN)
Verapamil AL
Verapamil Acis
Verapamil Atid
Verapamil Basics
Verapamil Ebewe
Verapamil HCl
Verapamil Henning
Verapamil Hydrochloride
Verapamil Injection
Verapamil MSD
Verapamil NM
Verapamil NM Pharma
Verapamil Nordic
Verapamil PB
Verapamil Riker
Verapamil SR
Verapamil Verla
Verapamil [USAN:BAN:INN]
Verapamil [USAN:INN:BAN]
Verapamil [Usan:Ban:Inn]
Verapamil-AbZ
Verapamilo
Verapamilo [INN-Spanish]
Verapamilum
Verapamilum [INN-Latin]
Verapin
Verapress 240 SR
Veraptin
Verasal
Verasifar
Veratensin
Verdilac
Verelan
Verelan PM
Verelan Pm
Verelan SR
Verexamil
Veroptinstada
Verpamil
Vetrimil
Vortac
Vérapamil
alpha-((N-Methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
alpha-(3-((2-(3,4-Dimethoxyphenyl)ethyl)-methylamino)propyl)-3,4-dimethoxy-alpha-(1-methylethyl)benzeneacetonitrile
alpha-Isopropyl-alpha-((N-methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
cMAP_000023
delta-365
nchembio.368-comp2
nchembio.79-comp5
4Neurotransmitter AgentsPhase 4, Phase 3, Phase 214795
5Peripheral Nervous System AgentsPhase 4, Phase 3, Phase 218510
6Protease InhibitorsPhase 4, Phase 34558
7Adrenergic AgentsPhase 4, Phase 3, Phase 24204
8Vasodilator AgentsPhase 4, Phase 3, Phase 22926
9HIV Protease InhibitorsPhase 4, Phase 34558
10Calcium, DietaryPhase 44678
11Adrenergic beta-1 Receptor AntagonistsPhase 4, Phase 3, Phase 2292
12Adrenergic AntagonistsPhase 4, Phase 3, Phase 21253
13Adrenergic beta-AntagonistsPhase 4, Phase 3, Phase 2979
14Angiotensin-Converting Enzyme InhibitorsPhase 4, Phase 3634
15calcium channel blockersPhase 41743
16Antihypertensive AgentsPhase 4, Phase 3, Phase 23618
17Anti-Arrhythmia AgentsPhase 4, Phase 3, Phase 22371
18
LosartanapprovedPhase 3, Phase 2276114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
19
Nebivololapproved, investigationalPhase 381152520-56-4, 99200-09-671301
Synonyms:
1,1'-Bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-yl)-2,2'-iminodiethanol
1,1'-[Bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-yl)]-2,2'-iminodiethanol
1-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)-2-[[2-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)-2-hydroxyethyl]amino]ethanol
104365-59-5
118457-14-0
2,2'-iminobis[1-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)ethanol]
99200-09-6
AC-1611
AC1L2FX8
AC1Q4OMF
Bystolic
C22H25F2NO4
CHEMBL434394
CID71301
D05127
DB04861
I06-0378
L001284
LS-178404
Lobivon
MolPort-003-849-343
Nebicard-5
 
Nebilet
Nebilong
Nebipill
Nebivolol
Nebivolol (USAN/INN)
Nebivolol [USAN:INN:BAN]
Nebivolol hydrochloride
Nebivololum
Nebivololum [Latin]
Nebivololum [latin]
Nubeta
PDSP1_000244
PDSP2_000243
PI-21858
R 67555
R-67555
R65,824
UNII-030Y90569U
alpha,Alpha'-(iminobismethylene)bis-(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-methanol)
alpha,Alpha'-(iminodimethylene)bis-(6-fluoro-2-chromanmethanol)
alpha,alpha'-(Iminobis(methylene))bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-methanol)
alpha,alpha'-(Iminodimethylene)bis(6-fluoro-2-chromanmethanol)
alpha,alpha'-(iminobis(methylene))bis(6-fluoro-3,4-dihydro)-2H-1-benzopyran-2-methanol
20AngiotensinogenPhase 3, Phase 21032
21Angiotensin Receptor AntagonistsPhase 3, Phase 21039
22Angiotensin II Type 1 Receptor BlockersPhase 3, Phase 2949
23
Angiotensin IIPhase 3, Phase 2103368521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
24Adrenergic beta-AgonistsPhase 31266
25Adrenergic AgonistsPhase 32331
26MitogensPhase 31386
27Contraceptives, OralPhase 33734
28
Irbesartanapproved, investigationalPhase 297138402-11-63749
Synonyms:
138402-11-6
2-Butyl-3-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-1,3-diazaspiro(4.4)non-1-en-4-one
2-Butyl-3-[2'-(1H-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[4.4]non-1-en-4-one
2-Butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-[ p -( o -1 H -tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4,4]non-1-en-4-one
2-butyl-3-[2'-(1h-tetrazol-5-yl)-biphenyl-4-ylmethyl]-1,3-diaza-spiro[
2-butyl-3-[2'-(1h-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[
2-butyl-3-[p-(o-1H-tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-n-butyl-3-((2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl)-1,3-diazaspiro(4,4)non-1-en-4-one
8-butyl-7-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]-7,9-diazaspiro[4.4]non-8-en-6-one
AC-537
AC1L1GMK
Aprovel
Avalide
Avapro
Avapro (TN)
BIDD:GT0347
BMS 186295
BMS Brand of Irbesartan
BMS-186295
BMS-186295, SR-47436, Aprovel, Karvea, Irbesartan
BRD-K60038276-001-02-5
BSPBio_002687
Bio-0053
Bristol Myers Brand of Irbesartan
C07469
C081309
C25H28N6O
CHEBI:5959
CHEMBL1513
CID3749
CPD000466306
D00523
DB01029
HMS1922J05
HMS2051L08
HMS2093E16
 
I06-0690
Irbesarran
Irbesartan
Irbesartan (JAN/USAN/INN)
Irbesartan [USAN:INN]
Irbesartan [Usan:Inn]
Irbetan
Jsp002315
KBio2_002231
KBio2_004799
KBio2_007367
KBio3_001907
KBioGR_001603
KBioSS_002231
Karvea
L000319
LS-60064
Lrbesartan
MLS000759408
MLS001424099
MolPort-003-666-550
NCGC00095122-01
NCGC00095122-02
NCGC00095122-03
S1507_Selleck
SAM001246548
SMR000466306
SPBio_001889
SPECTRUM1504259
SR 47436
SR-47436
STK645362
Sanofi Winthrop Brand of Irbesartan
Spectrum2_001675
Spectrum3_000994
Spectrum4_001122
Spectrum5_001288
Spectrum_001751
TL8000875
UNII-J0E2756Z7N
irbesartan
29
Propranololapproved, investigationalPhase 2202525-66-64946
Synonyms:
(+-)-Propranolol
(1)-1-(Isopropylamino)-3-(naphthyloxy)propan-2-ol
(R)-(+)-propranolol
(S)-(-)-PROPRANOLOL
1-((1-Methylethyl)amino)-3-(1-naphthalenyloxy)-2-propanol
1-(1-Naphthyloxy)-2-hydroxy-3-(isopropylamino)propane
1-(Isopropylamino)-3-(1-naphthoxy)-propan-2-ol
1-(Isopropylamino)-3-(1-naphthyloxy)-2-propanol
1-(isopropylamino)-3-(1-naphthyloxy)propan-2-ol
1-(naphthalen-1-yloxy)-3-(propan-2-ylamino)propan-2-ol
1-Isopropylamino-3-(1-naphthyloxy)-2-propanol
1-[(1-methylethyl)amino]-3-(naphthalen-1-yloxy)propan-2-ol
1-naphthalen-1-yloxy-3-(propan-2-ylamino)propan-2-ol
13013-17-7
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)- (9CI)
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)-, (+-)- (9CI)
3-(naphthalen-1-yloxy)-1-(propan-2-ylamino)propan-2-ol
4199-09-1
4199-10-4
525-66-6
AB00053537
AC1L1JA4
AC1Q1QBV
AC1Q1QC0
AKOS000588816
AY 64043
AY-20694
Anaprilin
Anapriline
Angilol
Apsolol
Avlocardyl
BPBio1_001040
BRD-A10070317-003-06-9
BSPBio_000944
BSPBio_002682
Bedranol
Beprane
Berkolol
Beta Neg
Beta-Neg
Beta-Propranolol
Beta-Tablinen
Beta-Timelets
Betachron
Betadren
Betalong
Bio-0732
Bio1_000367
Bio1_000856
Bio1_001345
C07407
C16H21NO2
CBDivE_006180
CCRIS 3082
CHEBI:8499
CHEMBL27
CID4946
Cardinol
Caridolol
Corpendol
D,L-Propranolol
D08443
DB00571
DL-Propranolol hydrochloride
Deralin
DivK1c_000023
Dl-Propranolol Hydrochloride
Dociton
Duranol
EINECS 208-378-0
EINECS 235-867-6
Efektolol
Elbrol
Etalong
Euprovasin
Frekven
HMS2090L21
Hemangeol
Herzbase
ICI 45520
IDI1_000023
INDERIDE-40/25
INDERIDE-80/25
Ikopal
Inderal
Inderal LA
Inderal La
Inderal hydrochloride
Inderalici
Inderex
Inderide
Inderol
Indobloc
 
Innopran XL
Innopran Xl
Intermigran
KBio1_000023
KBio2_002515
KBio2_005083
KBio2_007651
KBio3_001766
KBio3_001902
KBio3_002993
KBioGR_001347
KBioGR_001684
KBioGR_002515
KBioSS_002523
Kemi
Kemi S
L000679
LS-122410
LS-184129
Lopac0_000896
Migrastat
MolPort-001-794-623
NCGC00015798-07
NCGC00024690-02
NCGC00024690-03
NINDS_000023
NSC91523
Naprilin
Obsidan
Obzidan
Oposim
Oprea1_304193
PDSP1_000767
PDSP1_001607
PDSP1_001608
PDSP2_000755
PDSP2_001591
PDSP2_001592
Prano-Puren
Pranolol
Prestwick0_000952
Prestwick1_000952
Prestwick2_000952
Prestwick3_000952
Pronovan
Propanalol
Propanix
Propanolol
Propanolol [INN-Spanish]
Prophylux
Propranalol
Propranolol
Propranolol (INN)
Propranolol (TN)
Propranolol Hcl
Propranolol Hcl Intensol
Propranolol Hydrochloride
Propranolol [INN:BAN]
Propranololo
Propranololo [DCIT]
Propranololum
Propranololum [INN-Latin]
Propranur
Proprasylyt
Pylapron
R,S-Propranolol Hydrochloride
Racemic propranolol
Rapynogen
Reducor
Reducor Line
Reducor line
SPBio_001361
SPBio_001658
SPBio_003093
STK735510
Sagittol
Sawatal
Servanolol
Sloprolol
Spectrum2_001301
Spectrum2_001699
Spectrum3_000883
Spectrum3_001071
Spectrum4_000974
Spectrum4_001222
Spectrum5_000751
Sumial
Tesnol
UNII-9Y8NXQ24VQ
b-Propranolol
beta-Propranolol
cMAP_000071
etalong
propranolol
propranololo
β-Propranolol
30
Doxycyclineapproved, investigationalPhase 2219564-25-054671203, 5281011
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AR,5S,5ar,6R,12as)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6α-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Adoxa
Alodox
Alti-Doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Doryx
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy 100
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline hydrochloride
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
Morgidox
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Ocudox
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Monohydrate
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline
31
BenzocaineapprovedPhase 216841994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
20/20 Topical Anesthetic
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Alcohol Prep Pads
Allegenal-m
Alpha-caine Topical Anesthetic
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anbesol Jr
Anbesol Maximum Strength
Anbesol Regular Strength
Anestenka
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthetic
Anesthone
Atopalm Oral Pain Relief
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Baby Anestenka
Baby Sensigel
Baby Sensigel Night Time Formula
Baby Teething Oral Pain Reliever
Bactimicina For Sore Throat
Bencocaine Topical Anesthetic
Bensokain
Benz O Sthetic
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzodent
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
Boil Ease
Boy Butter Desensitizing Lubricant
Boy Butter Extreme Desensitizing Lubricant
Boy Butter Extreme H2O Desensitizing Lubricant
Brace Relief
Budpak Baby Teething Oral Pain Reliever
Budpak Oral Maximum Strength
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Carmex Cold Sore Treatment External Analgesic
Caswell No. 430A
Cepacol Fizzlers
Cepacol Sensations Hydra
Cepacol Sensations Sore Throat Hydra citrus splash
Cepacol Sensations Warming
Certus Sting Relief Prep Pad
Chloraseptic
Chloraseptic Warming Sore Throat
Colgate Orabase
Comfortcaine Topical Anesthetic
Cvs Fast Acting Baby Teething
Cvs Maximum Strength
Cvs Maximum Strength Boil Relief
Cvs Oral Anesthetic
Cvs Pharmacy Instant Toothache
Cvs Pharmacy Maximum Strength
Cvs Pharmacy Mouth Sore Gel
Cvs Pharmacy Nighttime Oral Pain Relief
D001566
D00552
DB01086
Dental Relief
Dentek Instant Pain Relief Maximum Strength
Dermoplast
Diet Ayds
DivK1c_000932
Dollar General Toothache Relief
Dukal Sting Relief Pad
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Finafta Baby
Finafta MultiOral
Formate, Benzocaine
Gelato Topical Anesthetic
Good Neighbor Pain Relief
Goodsense Oral Pain Relief
Gps Topical Anesthetic
Gumnumb Topical Anesthetic
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Heb Severe Toothache
Herbasoul Male Genital Desensitizer Cream
 
Hurricaine
Hurricaine Topical Anesthetic
Hurricaine Topical Anesthetic Gel
Hurricaine Topical Anesthetic Liquid
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
Insect Bite Relief
Instant Toothache Pain Relief
Intense Cvs Intense Toothache
Iodent Maximum Strength Oral Analgesic
Ismile Topical Anesthetic
Jianze Sting Relief Pads
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Kank-a Mouth Pain
Keloform
Kmart Smart Sense
Kroger Toothache Pain Relief
LS-35847
Leader Oral Analgesic
Little Colds Sore Throat Relief Melt Aways
MLS001331704
MLS002153970
Makesense Junior Pain Relief
Makesense Pain Relief
Male Desensitizer Pleasure Balm
Mandelay Male Genital Desensitizer
Mark 3
Methanesulfonate, Benzocaine
MolPort-000-871-526
Mouth Sore Medication
Mouth Sore Relief Applicator
Mouth Sore Relief Professional Strength
My Fair Baby Instant Pain Relief
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Nene Dente
Norcain
Norcaine
Norcainum
Opahl
Opahl Dye Free
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orajel For All Mouth Sores Maximum Strength
Orajel For Cold Sores
Orajel For Toothache Maximum Strength
Orajel Instant Pain Relief Maximum Strength
Orajel Instant Pain Relief Regular Strength
Orajel Instant Relief For Teething Pain
Orajel Instant Relief For Teething Pain Cooling Cucumber
Orajel Instant Relief For Teething Pain Daytime Nighttime Twin Pack
Orajel Instant Relief For Teething Pain Longer Lasting
Orajel Maximum Strength
Orajel Nighttime Instant Relief For Teething Pain Longer Lasting Extra Strength
Orajel Severe Toothache Maximum Strength Fast-Acting Formula
Oral Analgesic Maximum Strength
Oral B Instant Pain Relief
Oral Gel Maximum Strength
Oral Pain Relief Anesthetic Anesthetic
Oral Pain Reliever
Oralabs Cold Sore Treatment
Orthesin
Otocain
Outgro
Pac-dent Top Gel
Pain Relief
Pain Relief Alcohol Swabs
Parathesin
Parathesin (TN)
Parathesine
Physicians Care Sting Relief Pad
Pleasure Balm Kama Sutra
Preboost
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
Purelife Topical Anesthetic
Quality Choice Maximum Strength Oral Pain Relieving
Red Cross Oral Pain Relief
Rexall Maximum Strength
Rite Aid Baby Care
Rite Aid Liquid Anesthetic Oral Pain Relief
Rite Aid Maximum Strength
Rite Aid Oral Pain Reliever
Rite Aid Professional Strength
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Sally Hansen Ouch-relief Numbing Wipes
Sally Hansen Ouch-relief Wax Kit
Sally Hansen Ouch-relief Wax Strip Kit
Sensigel
Severe Oral Pain Reliever
Sheffield Baby Teething Gel
Sheffield Pain Relief
Shunga Male Genital Desensitizer
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Sting Relief Medicated Pad
Sting Relief Pads
Tanac
Terrasil Boil Pain Relief
Tiger Supply Inc Topical Anesthetic
Top Quality Mfg. Topical Anesthetic
Topcaine
Topcare Maximum Strength
Topical Anesthetic Banana
Topical Anesthetic Bubble Gum
Topical Anesthetic Cherry
Topical Anesthetic Mint
Topical Anesthetic Pina Colada
Topical Anesthetic Raspberry
Topical Anesthetic Strawberry
UNII-U3RSY48JW5
Ultracare Anesthetic Bubble Gum
Ultracare Anesthetic Butter Rum
Ultracare Anesthetic Creme de Menthe
Ultracare Anesthetic Pina Colada
Ultracare Anesthetic Walterberry
WLN: ZR DVO2
Walgreens Baby Teething
Walgreens Intense Toothache
Walgreens Maximum Strength
Walgreens Pain Relieving For Boils
Walgreens Severe Oral Pain Reliever
Walgreens Severe Toothache Relief
Winco Foods Maximum Strength Oral Analgesic
ZINC12358719
Zilactin-b
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
32
MentholapprovedPhase 219992216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
Miracle Foot Repair Cream
Miracle Of Aloe Rub Roll On
Miracle Pain Cream
Moisture Therapy Anti-Itch
MolPort-000-849-729
MolPort-001-793-392
Moore Medical Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Black Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Menthol Cough Suppressant/anesthetic Drops
Mr Dudleys Topical Pain Relief
Muscle
Muscle Rub Ultra Strength Pain Relieving
Myo-breathe
Myorx Low Dose Pain Relieving
Myorx Pain Relieving
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Nan San Easy Flex Pain Relieving
Natural Cherry Honey Herb Throat Drops
Natural Herb cough drop
Natural Honey Herb Cough Suppressant Throat Drops
Natural Lemon Mint Herb Throat Drops
Natural Pain Relieving Lavender Breeze Cryogel
Natures Choice Cool Hot Ice
Natures Sunshine Products Everflex Topical Analgesic Pain Relief
Neoisomenthol
Nice Assorted
Nice Cherry
Nice Citrus
Nice Cool Mint
Nice Honey Lemon
Nice Menthol
No Pain More Gain
North Cough Drop
Numotizine
Olbas Lozenges Maximun Strength
Olbas Pastilles
Original Extra Strong All Natural Fishermans Friend Menthol Cough Suppressant
Ortho-nesic
Osmoflex
Oxyrub Pain Relief
Pain Relief Balmpreferred Plus Ph Preferred Plus Pharmacy
Pain Relief Therapy Patch
Pain Reliever
Pain Relieving
Pain Relieving Analgesic
Pain Relieving Patch
Pain Relieving Patch Ultra Strength
Pain Relieving Patch Ultra Strength ULTRA STRENGTH
Panitrol XR
Paraid Extra Strength Menthol Pain Relief Sleeve Knee Large Ankles Elbows
Patch Scherer Labs
Patch Walgreens
Peppermint camphor
Perfect Purity Hotice
Perfect Purity Medicated Foot Powder
Perform
Personal Care Extra Strength Cold Hot
Personal Care Ice Cold
Plaster MandAHerbalPlaster
Po Sum On Medicated
Polar Frost Cold
Power Relief
Preferred Plus Body Powder
Premier Value Medicated Foot Powder
Q Health Pain Relief Spray
Quickflex
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Raw Heat
Raw Ice
Reactice Reactivating Ice Baume
Red Lion Relief
Relief Pain Relieving Cream
Rexall Vanishing Scent Pain Relieving
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Screamin Menthol Toast
Sella Natural
Skin So Soft Bug Guard Plusitch Relief itch relief
Smith Bros Honey Lemon Cough Drops
Smith Bros Menthol Eucalyptus Cough Drops
Smith Bros Sugar-free Black Cherry Cough Drops
Sof Skin Icy Blue
Sofskin Ice Analgesic
Sombra Cool Therapy
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Stopain Cold Pain Relieving
Stopain Cold Professional Strength Pain Relieving
Stopain Extra Strength Pain Relieving
Sub-zero COOL PAIN RELIEVING
Sugar Free Cherry Fishermans Friend Menthol Cough Suppressant
Sugar Free Cherry Herb Throat Drops
Sugar Free Lemon Mint Herb Throat Drops
Sugar Free Mountain Herb Cough Suppressant Throat Drops
Sugar Free Original Swiss Herb Cough Suppressant Throat Drops
Sugar Free Refreshing Mint Fishermans Friend Menthol Cough Suppressant
Sugar Free Swiss Cherry Herb Throat Drops
The Medicine Shoppe Extra Strength Pain Relieving
The Original Natural Herb Cough Drops
Therafreeze
Theraid
Therapeutic Relief Preferred Plus Pharmacy
Theraplus Plus
Throat Coat
Tianhe Guben Yaoshen Tie Gao
Top Care Medicated
Topcare Medicated
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
Ultra Strength Stopain Pain Relieving
Us Favorite Cold Pain Relieving
Vaporizing Colds Rub
Vicks Vapodrops Cough Relief
Vitaminerals Inc. Cryogel Natural Pain Relieving
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
Walgreens Aloe Vera Cooling
Watermelon Frost Sore Throat
Wellpatch Backache Pain Relief
Xtracare Ice Cold Topical Analgesic Gel
Youngevity Invision CM
Yun Xiang Jing
ZINC01482164
Zhong Hua Jiu Patch
Zims Arnica Max
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
33Pharmaceutical SolutionsPhase 1, Phase 27004
34Anti-Infective AgentsPhase 217220
35Anti-Bacterial AgentsPhase 29140
36Antiprotozoal AgentsPhase 21730
37AntimalarialsPhase 21058
38Antiparasitic AgentsPhase 21854
39tannic acidNutraceuticalPhase 21684

Interventional clinical trials:

(show all 31)
idNameStatusNCT IDPhase
1Comparison of Medical Therapies in Marfan Syndrome.CompletedNCT01295047Phase 4
2Endoscopic Ultrasound-guided Fine Needle Aspiration of Solid Masses: Histological and Immunohistochemical EvaluationCompletedNCT01437410Phase 4
3Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan SyndromeCompletedNCT00723801Phase 3
4Angiotensin Converting Enzyme Inhibitors in Marfan SyndromeCompletedNCT00485368Phase 3
5Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome--Pediatric Heart NetworkCompletedNCT00429364Phase 3
6Comparison Study of the Effect of Aliskiren Versus Negative Controls on Aortic Stiffness in Patients With Marfan Syndrome Under Treatment With AtenololRecruitingNCT01715207Phase 3
7Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockersRecruitingNCT00782327Phase 3
8Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan PatientsRecruitingNCT00683124Phase 3
9Artisan Aphakia Lens for the Correction of Aphakia in ChildrenRecruitingNCT01547442Phase 3
10Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan SyndromeActive, not recruitingNCT01145612Phase 3
11Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan SyndromeTerminatedNCT00763893Phase 3
12Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan SyndromeWithdrawnNCT01361087Phase 3
13Losartan Versus Atenolol for the Treatment of Marfan SyndromeCompletedNCT00593710Phase 2
14A Randomized, Open-label, LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients With Marfan SyndromeRecruitingNCT00651235Phase 2
15The Oxford Marfan TrialRecruitingNCT01949233Phase 2
16Clinical Study of the Efficacy and Safety of the Application of Allogeneic Mesenchymal (Stromal) Cells of Bone Marrow, Cultured Under the Hypoxia in the Treatment of Patients With Severe Pulmonary EmphysemaRecruitingNCT01849159Phase 1, Phase 2
17Maintaining Muscle Mass GainsNot yet recruitingNCT02621346Phase 2
18Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan SyndromeCompletedNCT01760668
19Clinical Variability in Marfan SyndromeCompletedNCT01707563
20Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
21Study of Heritable Connective Tissue DisordersCompletedNCT00001641
22Family Myopia StudyCompletedNCT00341549
23Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
24Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesRecruitingNCT02213484
25Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic ImagingRecruitingNCT02538822
26Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic SclerosisRecruitingNCT00006393
27Exercise Stress MRI to Evaluate Aortic Function (Compliance, Distensibility, Pulse Wave Velocity) and Left Ventricular Function : Validation in Healthy Volunteers and in Selected Patients. A Pilot Study.RecruitingNCT02018835
28Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
29Thoracic Aortic Dilatation SyndromesActive, not recruitingNCT02111668
30National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165
31Real-time 3-Dimensional Echocardiography for Assessment of Cardiac Function and Congenital Heart DiseaseWithdrawnNCT01300221

Search NIH Clinical Center for Marfan Syndrome


Cochrane evidence based reviews: marfan syndrome

Genetic Tests for Marfan Syndrome

About this section

Genetic tests related to Marfan Syndrome:

id Genetic test Affiliating Genes
1 Marfan Syndrome22 FBN1

Anatomical Context for Marfan Syndrome

About this section

MalaCards organs/tissues related to Marfan Syndrome:

33
Heart, Bone, Eye, Lung, Testes, Skin, Spinal cord

Animal Models for Marfan Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Marfan Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8DCN, MMP2, TGFB1, TGFBR1, TGFBR2
2MP:00053887.9DCN, FBN1, FBN2, LTBP2, MMP2, TGFB1
3MP:00053917.6ACTA2, DCN, FBN2, LTBP2, MMP2, TGFB1
4MP:00053906.9BMP6, COL1A2, DCN, FBN1, FBN2, MMP2
5MP:00053786.8BMP6, COL1A2, DCN, FBN1, FBN2, MMP2
6MP:00053696.8ACTA2, COL1A2, DCN, FBN1, FBN2, MMP2
7MP:00053856.5ACTA2, COL1A2, FBN1, FBN2, LTBP2, MMP2

Publications for Marfan Syndrome

About this section

Articles related to Marfan Syndrome:

(show top 50)    (show all 811)
idTitleAuthorsYear
1
Species complexes and phylogenetic lineages of Hoferellus (Myxozoa, Cnidaria) including revision of the genus: A problematic case for taxonomy. (26754529)
2016
2
Association between the Catechol-O-Methyltransferase (COMT) ValA^a8/a8,Met Polymorphism and Alexithymia in Patients with Obsessive-Compulsive Disorder. (26996573)
2016
3
Propranolol reduces viability and induces apoptosis in hemangioblastoma cells from von Hippel-Lindau patients. (26394686)
2015
4
Renal cell carcinoma: review of etiology, pathophysiology and risk factors. (26558360)
2015
5
An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report. (25850602)
2015
6
Newcastle disease virus (NDV) recombinants expressing infectious laryngotracheitis virus (ILTV) glycoproteins gB and gD protect chickens against ILTV and NDV challenges. (24829337)
2014
7
Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease. (23213074)
2013
8
Prolidase Activity in Patients With Coronary Artery Aneurysm. (23748981)
2013
9
Pulmonary hypertension as a prognostic factor in idiopathic pulmonary fibrosis. (23485885)
2013
10
DNA methylation-mediated silencing of nonsteroidal anti-inflammatory drug-activated gene (NAG-1/GDF15) in glioma cell lines. (21437897)
2012
11
ILK: a pseudokinase in the center stage of cell-matrix adhesion and signaling. (22763012)
2012
12
Isolated hemidystonia associated with NMDA receptor antibodies. (21412839)
2011
13
Association between generalized anxiety disorder and asthma morbidity. (21715294)
2011
14
The Hippo pathway transcriptional co-activator, YAP, is an ovarian cancer oncogene. (21317925)
2011
15
Single cell phospho-specific flow cytometry can detect dynamic changes of phospho-Stat1 level in lung cancer cells. (20814891)
2010
16
Positive allosteric modulators of the metabotropic glutamate receptor subtype 4 (mGluR4). Part II: Challenges in hit-to-lead. (19097893)
2009
17
Idiopathic granulomatous mastitis in Hispanic women - Indiana, 2006-2008. (19959984)
2009
18
Two forms of long-term depression in a polysynaptic pathway in the leech CNS: one NMDA receptor-dependent and the other cannabinoid-dependent. (19657662)
2009
19
Hemiplegia with dysarthria: an initial manifestation of Japanese encephalitis in a 4-year old child. (19248662)
2008
20
Factor Seven Activating Protease (FSAP) expression in human monocytes and accumulation in unstable coronary atherosclerotic plaques. (17482622)
2008
21
Correlation between circulating adhesion molecule levels and albuminuria in type 2 diabetic normotensive patients. (17660723)
2007
22
Neuronatin expression and its clinicopathological significance in pulmonary non-small cell carcinoma. (17805055)
2007
23
Lacrimal caruncle nevus associated with Rubinstein-Taybi syndrome. (18260291)
2007
24
Influence of ABCB1 C3435T polymorphism on the pharmacokinetics of lansoprazole and gastroesophageal symptoms in Japanese renal transplant recipients classified as CYP2C19 extensive metabolizers and treated with tacrolimus. (17190370)
2006
25
Preliminary data on Pemphigus vulgaris treatment by a proteomics-defined peptide: a case report. (17062151)
2006
26
Gastric adenomas: relationship between clinicopathological findings, Helicobacter pylori infection, APC mutations and COX-2 expression. (16760271)
2006
27
Future directions in vascular endothelial growth factor-targeted therapy for metastatic colorectal cancer. (17145524)
2006
28
The current standard of care in the periprocedural management of the patient with obstructive jaundice. (17132306)
2006
29
Transmembrane transport of endo- and xenobiotics by mammalian ATP-binding cassette multidrug resistance proteins. (16816140)
2006
30
Cross-talk among gp130 cytokines in adipocytes. (16096272)
2005
31
Dopamine D3 receptor stimulation promotes the proliferation of cells derived from the post-natal subventricular zone. (15584906)
2004
32
Loss of BMP2, Smad8, and Smad4 expression in prostate cancer progression. (15042598)
2004
33
Caspase-14 is expressed in the epidermis, the choroid plexus, the retinal pigment epithelium and thymic Hassall's bodies. (12700654)
2003
34
Pestis redux: the initial years of the third bubonic plague pandemic, 1894-1901. (20712094)
2002
35
Enzymatic synthesis of chondroitin sulfate E by N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase purified from squid cartilage. (12423630)
2002
36
Molecular genetics of the Bare lymphocyte syndrome. (11258423)
2000
37
3alpha-(4-Substituted phenyl)nortropane-2beta-carboxylic acid methyl esters show selective binding at the norepinephrine transporter. (11078197)
2000
38
Fetal alcohol syndrome epidemic on Manitoba reserve. (9220946)
1997
39
A twin study of late-onset depression and apolipoprotein E epsilon 4 as risk factors for Alzheimer's disease. (9099411)
1997
40
Characterization and distribution of somatostatin SS-1 and SRIF-1 binding sites in rat brain: identity with SSTR-2 receptors. (7781707)
1995
41
Distinct patterns of cyclin D1 regulation in models of liver regeneration and human liver. (7733934)
1995
42
Protein kinase C isoforms in human neutrophil cytoplasts. (1311015)
1992
43
Report on a case of Hutchinson-Gilford progeria, with special reference to orthopedic problems. (1477072)
1992
44
Isolation and characterization of an unique kidney antigen of relevance in human renal disease. (1967133)
1990
45
Synovial involvement by Mycobacterium marinum. A histopathological study of 25 culture-proven cases. (3241735)
1988
46
Vasopressors and cardiac rupture. (7223670)
1981
47
Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature. (939040)
1976
48
Muscle in Lafora disease. (4140718)
1974
49
A five-year follow-up study of renal tuberculosis treated chemotherapeutically. (13702138)
1961
50
Slit pupil associated with congenital aphakia. (12997951)
1951

Variations for Marfan Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Marfan Syndrome:

67 (show all 226)
id Symbol AA change Variation ID SNP ID
1FBN1p.Cys111ArgVAR_002276
2FBN1p.Arg122CysVAR_002277rs137854467
3FBN1p.Cys129TyrVAR_002278
4FBN1p.Cys166PheVAR_002279
5FBN1p.Cys166SerVAR_002280
6FBN1p.Trp217GlyVAR_002281
7FBN1p.Cys476GlyVAR_002282
8FBN1p.Asp490TyrVAR_002283
9FBN1p.Arg545CysVAR_002284
10FBN1p.Asn548IleVAR_002285rs137854462
11FBN1p.Cys587TyrVAR_002286
12FBN1p.Arg627CysVAR_002287
13FBN1p.Cys661ArgVAR_002288
14FBN1p.Ala705ThrVAR_002289
15FBN1p.Cys711TyrVAR_002290
16FBN1p.Asp723AlaVAR_002291rs137854463
17FBN1p.Tyr746CysVAR_002292
18FBN1p.Cys750GlyVAR_002293
19FBN1p.Cys862ArgVAR_002294
20FBN1p.Cys926ArgVAR_002295
21FBN1p.Val984IleVAR_002296
22FBN1p.Cys996ArgVAR_002297rs140592
23FBN1p.Gly1013ArgVAR_002298rs140593
24FBN1p.Lys1023AsnVAR_002299
25FBN1p.Lys1043ArgVAR_002300rs137854472
26FBN1p.Ile1048ThrVAR_002301
27FBN1p.Cys1053ArgVAR_002303
28FBN1p.Cys1055GlyVAR_002304
29FBN1p.Asp1072GlyVAR_002306
30FBN1p.Glu1073LysVAR_002307rs137854478
31FBN1p.Cys1074ArgVAR_002308rs137854465
32FBN1p.Cys1086TrpVAR_002309
33FBN1p.Cys1117GlyVAR_002310
34FBN1p.Cys1117TyrVAR_002311rs137854470
35FBN1p.Gly1127SerVAR_002312rs137854468
36FBN1p.Asn1131TyrVAR_002313rs137854473
37FBN1p.Arg1137ProVAR_002314rs137854456
38FBN1p.Cys1153TyrVAR_002316rs140599
39FBN1p.Asp1155AsnVAR_002317
40FBN1p.Arg1170HisVAR_002318rs137854475
41FBN1p.Cys1171TrpVAR_002319
42FBN1p.Asn1173LysVAR_002320
43FBN1p.Cys1223TyrVAR_002321rs137854469
44FBN1p.Cys1242TyrVAR_002322rs137854471
45FBN1p.Cys1249SerVAR_002323rs137854458
46FBN1p.Asn1382SerVAR_002324
47FBN1p.Asp1404TyrVAR_002325
48FBN1p.Cys1513ArgVAR_002326
49FBN1p.Cys1589PheVAR_002327
50FBN1p.Cys1610GlyVAR_002328
51FBN1p.Cys1663ArgVAR_002329rs137854459
52FBN1p.Pro1837SerVAR_002330
53FBN1p.Asn1893LysVAR_002331
54FBN1p.Cys1928ArgVAR_002332
55FBN1p.Cys2099TrpVAR_002333
56FBN1p.Cys2111TyrVAR_002334
57FBN1p.Asp2127GluVAR_002335
58FBN1p.Asn2144SerVAR_002336rs137854461
59FBN1p.Cys2151TrpVAR_002337
60FBN1p.Cys2221SerVAR_002338rs137854460
61FBN1p.Cys2258ArgVAR_002339
62FBN1p.Arg2282TrpVAR_002340
63FBN1p.Cys2307SerVAR_002341rs137854457
64FBN1p.Cys2489ArgVAR_002343
65FBN1p.Cys2511ArgVAR_002344
66FBN1p.His2623ProVAR_002345
67FBN1p.Gly2627ArgVAR_002346
68FBN1p.Arg2680CysVAR_002347
69FBN1p.Arg2726TrpVAR_002348rs61746008
70FBN1p.Cys504PheVAR_010776
71FBN1p.Cys1129TyrVAR_010777rs137854482
72FBN1p.Tyr1261CysVAR_010778
73FBN1p.Cys1833SerVAR_010779
74FBN1p.Cys2142TyrVAR_010780
75FBN1p.Arg62CysVAR_017967rs25403
76FBN1p.Cys89PheVAR_017968rs112660651
77FBN1p.Arg114CysVAR_017969
78FBN1p.Cys154SerVAR_017971
79FBN1p.Arg240CysVAR_017972rs137854480
80FBN1p.Trp366CysVAR_017973
81FBN1p.Gly560SerVAR_017974
82FBN1p.Cys570TyrVAR_017975
83FBN1p.Gly592AspVAR_017976
84FBN1p.Cys596TyrVAR_017977
85FBN1p.Cys598TrpVAR_017978
86FBN1p.Cys652SerVAR_017979
87FBN1p.Asp654AsnVAR_017980
88FBN1p.Ser681TyrVAR_017982
89FBN1p.Cys683ArgVAR_017983
90FBN1p.Cys685TrpVAR_017984rs140603
91FBN1p.Asp723ValVAR_017985
92FBN1p.Cys734PheVAR_017986
93FBN1p.Cys748TyrVAR_017987
94FBN1p.Cys776GlyVAR_017988
95FBN1p.Cys776TyrVAR_017989
96FBN1p.Cys781ArgVAR_017990
97FBN1p.Cys816SerVAR_017991
98FBN1p.Cys890ArgVAR_017992
99FBN1p.Cys908ArgVAR_017993
100FBN1p.Glu913GlyVAR_017994
101FBN1p.Cys921GlyVAR_017995
102FBN1p.Gly985ArgVAR_017996
103FBN1p.Cys1044TyrVAR_017997
104FBN1p.Cys1055TrpVAR_017998
105FBN1p.Cys1055TyrVAR_017999
106FBN1p.Tyr1101CysVAR_018000
107FBN1p.Glu1200GlyVAR_018002
108FBN1p.Glu1325GlnVAR_018003
109FBN1p.Ala1337ProVAR_018004
110FBN1p.Cys1339TyrVAR_018005
111FBN1p.Glu1366LysVAR_018006
112FBN1p.Cys1374SerVAR_018007
113FBN1p.Cys1389ArgVAR_018008
114FBN1p.Pro1424AlaVAR_018010
115FBN1p.Cys1429SerVAR_018011
116FBN1p.Cys1564TyrVAR_018013
117FBN1p.Cys1770PheVAR_018015
118FBN1p.Arg1790ProVAR_018016
119FBN1p.Cys1791TyrVAR_018017
120FBN1p.Cys1793TrpVAR_018018
121FBN1p.Gly1796GluVAR_018019
122FBN1p.Cys1806SerVAR_018020
123FBN1p.Cys1835TyrVAR_018021rs111929350
124FBN1p.Ile1909ThrVAR_018022
125FBN1p.Arg1915SerVAR_018023
126FBN1p.Cys1971TyrVAR_018025
127FBN1p.Cys1977TyrVAR_018026
128FBN1p.Cys1998TyrVAR_018027
129FBN1p.Cys2111ArgVAR_018029rs363815
130FBN1p.Cys2221GlyVAR_018031
131FBN1p.Asn2223HisVAR_018032
132FBN1p.Ile2269ThrVAR_018033
133FBN1p.Arg2335TrpVAR_018034
134FBN1p.Cys2406TyrVAR_018036
135FBN1p.Cys2442TrpVAR_018037
136FBN1p.Tyr2474CysVAR_018038
137FBN1p.Cys2581PheVAR_018039
138FBN1p.Ile2585ThrVAR_018040
139FBN1p.Gly2618ArgVAR_018041rs141133182
140FBN1p.Asn2624LysVAR_018042
141FBN1p.Cys2652GlyVAR_018043
142FBN1p.Gly2668CysVAR_018044
143FBN1p.Gly985GluVAR_018319rs137854477
144FBN1p.Cys1265ArgVAR_018320rs137854474
145FBN1p.Tyr20CysVAR_023859
146FBN1p.Cys123TyrVAR_023860
147FBN1p.Cys177ArgVAR_023861rs363853
148FBN1p.Cys224ArgVAR_023862
149FBN1p.Arg439GlyVAR_023863
150FBN1p.Cys541TyrVAR_023865
151FBN1p.Cys628LysVAR_023866
152FBN1p.Tyr635CysVAR_023868
153FBN1p.Arg636IleVAR_023869
154FBN1p.Cys781TyrVAR_023870
155FBN1p.Cys832TyrVAR_023871
156FBN1p.Cys890GlyVAR_023872
157FBN1p.Gly1058AspVAR_023873
158FBN1p.Asp1113ValVAR_023874
159FBN1p.Cys1153SerVAR_023875
160FBN1p.Tyr1219CysVAR_023877
161FBN1p.Tyr1261AspVAR_023878
162FBN1p.Cys1278SerVAR_023879
163FBN1p.Cys1284GlyVAR_023880
164FBN1p.Cys1333SerVAR_023881
165FBN1p.Cys1402ArgVAR_023882
166FBN1p.Pro1424SerVAR_023883
167FBN1p.Gly1475GluVAR_023884
168FBN1p.Gly1475SerVAR_023885
169FBN1p.Cys1564PheVAR_023886
170FBN1p.Met1576ThrVAR_023887
171FBN1p.Cys1631GlyVAR_023888
172FBN1p.Cys1663TyrVAR_023889
173FBN1p.Cys1791ArgVAR_023890
174FBN1p.Cys1806TyrVAR_023891
175FBN1p.Cys1876TyrVAR_023892rs112728248
176FBN1p.Thr1887IleVAR_023893
177FBN1p.Cys1895ArgVAR_023894
178FBN1p.Cys1900TyrVAR_023895
179FBN1p.Cys1928GlyVAR_023896
180FBN1p.Cys1928TyrVAR_023897
181FBN1p.Cys2038TyrVAR_023898rs363804
182FBN1p.Cys2085ArgVAR_023899
183FBN1p.Ala2160ProVAR_023900
184FBN1p.Cys2221PheVAR_023901
185FBN1p.Cys2251ArgVAR_023902rs112836174
186FBN1p.Ala2385ThrVAR_023903
187FBN1p.Cys2500ArgVAR_023904
188FBN1p.Cys2500TyrVAR_023905
189FBN1p.Cys2535TrpVAR_023906rs113544411
190FBN1p.Gly2536ArgVAR_023907
191FBN1p.Glu2570LysVAR_023908
192FBN1p.Cys2571ArgVAR_023909
193FBN1p.Cys2592SerVAR_023910
194FBN1p.Cys2605ArgVAR_023911
195FBN1p.Cys2605TyrVAR_023912
196FBN1p.Tyr2629CysVAR_023914
197FBN1p.Cys2663SerVAR_023915
198FBN1p.Cys1068GlyVAR_064503
199FBN1p.Cys80GlyVAR_065981
200FBN1p.Cys499TyrVAR_065982
201FBN1p.Cys611ArgVAR_065983
202FBN1p.Cys617GlyVAR_065984
203FBN1p.Cys685TyrVAR_065985
204FBN1p.Cys790TyrVAR_065986
205FBN1p.Cys811TyrVAR_065987
206FBN1p.Cys853SerVAR_065988
207FBN1p.Cys926TyrVAR_065989
208FBN1p.Pro1090SerVAR_065990
209FBN1p.Gly1185AspVAR_065991
210FBN1p.Cys1284TyrVAR_065992
211FBN1p.Cys1350PheVAR_065993
212FBN1p.Thr1401AlaVAR_065994
213FBN1p.Cys1431TrpVAR_065995rs112375043
214FBN1p.Cys1431TyrVAR_065996
215FBN1p.Asp1487AlaVAR_065998
216FBN1p.Asn1489LysVAR_065999
217FBN1p.Gly1838CysVAR_066000
218FBN1p.Cys1934SerVAR_066001
219FBN1p.Glu1976GlyVAR_066002
220FBN1p.Cys1984ArgVAR_066003
221FBN1p.Asp2166AsnVAR_066004
222FBN1p.Ile2185ThrVAR_066005
223FBN1p.Asp2247GlyVAR_066006
224FBN1p.Cys2318ArgVAR_066007rs111588631
225FBN1p.Cys2442SerVAR_066008
226FBN1p.Cys2646ArgVAR_066010

Clinvar genetic disease variations for Marfan Syndrome:

5 (show all 262)
id Gene Variation Type Significance SNP ID Assembly Location
1LTBP2NM_000428.2(LTBP2): c.1642C> T (p.Arg548Ter)single nucleotide variantPathogenicrs137854855GRCh37Chr 14, 75017811: 75017811
2FBN1NM_000138.4(FBN1): c.385T> G (p.Cys129Gly)single nucleotide variantPathogenicrs199474693GRCh38Chr 15, 48600196: 48600196
3FBN1NM_000138.4(FBN1): c.1496G> A (p.Cys499Tyr)single nucleotide variantPathogenicrs587782944GRCh38Chr 15, 48513641: 48513641
4FBN1NM_000138.4(FBN1): c.4405C> T (p.Arg1469Cys)single nucleotide variantLikely pathogenicrs587782946GRCh38Chr 15, 48470688: 48470688
5FBN1NM_000138.4(FBN1): c.5783G> T (p.Cys1928Phe)single nucleotide variantPathogenicrs587782947GRCh38Chr 15, 48446711: 48446711
6FBN1NM_000138.4(FBN1): c.8521G> T (p.Glu2841Ter)single nucleotide variantPathogenicrs587782948GRCh38Chr 15, 48411085: 48411085
7FBN1NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg)single nucleotide variantLikely pathogenicrs146726731GRCh37Chr 15, 48812976: 48812976
8FBN1NM_000138.4(FBN1): c.1156_1167delAACAAGCTGTGC (p.Asn386_Cys389del)deletionPathogenicrs672601352GRCh38Chr 15, 48516343: 48516354
9FBN1NC_000015.10: g.(?_48411326)_(48468521_?)deldeletionPathogenicGRCh37Chr 15, 48703523: 48760718
10FBN1NM_000138.4(FBN1): c.(?_5475)_(5542_?)del (p.(?))deletionPathogenicGRCh37Chr 15, 48744762: 48744829
11FBN1NM_000138.4(FBN1): c.8080C> T (p.Arg2694Ter)single nucleotide variantPathogenicrs200309328GRCh37Chr 15, 48704912: 48704912
12FBN1NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr)single nucleotide variantLikely pathogenic, Pathogenicrs727503054GRCh37Chr 15, 48712949: 48712949
13FBN1NM_000138.4(FBN1): c.4675_4718del44 (p.Lys1559Leufs)deletionLikely pathogenicrs727503056GRCh37Chr 15, 48760164: 48760207
14FBN1NM_000138.4(FBN1): c.1879C> T (p.Arg627Cys)single nucleotide variantPathogenicrs727503057GRCh37Chr 15, 48797303: 48797303
15FBN1NM_000138.4(FBN1): c.164+2T> Csingle nucleotide variantLikely pathogenicrs727503058GRCh37Chr 15, 48936801: 48936801
16FBN1FBN1, 366-BP DELdeletionPathogenic
17FBN1NM_000138.4(FBN1): c.8268G> A (p.Trp2756Ter)single nucleotide variantPathogenicrs267606796GRCh37Chr 15, 48703535: 48703535
18FBN1NM_000138.4(FBN1): c.3746G> C (p.Cys1249Ser)single nucleotide variantPathogenicrs137854458GRCh37Chr 15, 48776107: 48776107
19FBN1NM_000138.4(FBN1): c.4987T> C (p.Cys1663Arg)single nucleotide variantPathogenicrs137854459GRCh37Chr 15, 48756174: 48756174
20FBN1NM_000138.4(FBN1): c.6662G> C (p.Cys2221Ser)single nucleotide variantPathogenicrs137854460GRCh37Chr 15, 48725140: 48725140
21FBN1NM_000138.4(FBN1): c.3350G> A (p.Cys1117Tyr)single nucleotide variantPathogenicrs137854470GRCh37Chr 15, 48779622: 48779622
22FBN1NM_000138.4(FBN1): c.3725G> A (p.Cys1242Tyr)single nucleotide variantPathogenicrs137854471GRCh37Chr 15, 48776128: 48776128
23FBN1NM_000138.4(FBN1): c.6339T> G (p.Tyr2113Ter)single nucleotide variantPathogenicrs267606797GRCh37Chr 15, 48729559: 48729559
24FBN1NM_000138.4(FBN1): c.6431A> G (p.Asn2144Ser)single nucleotide variantPathogenicrs137854461GRCh37Chr 15, 48729223: 48729223
25FBN1NM_000138.4(FBN1): c.1643A> T (p.Asn548Ile)single nucleotide variantPathogenicrs137854462GRCh37Chr 15, 48802312: 48802312
26FBN1NM_000138.4(FBN1): c.2168A> C (p.Asp723Ala)single nucleotide variantPathogenicrs137854463GRCh37Chr 15, 48789588: 48789588
27FBN1FBN1, 83-BP DELdeletionPathogenic
28FBN1FBN1, IVS54DS, G-C, +1, 123-BP DELdeletionPathogenic
29FBN1NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter)single nucleotide variantPathogenicrs137854466GRCh37Chr 15, 48703477: 48703477
30FBN1NM_000138.4(FBN1): c.364C> T (p.Arg122Cys)single nucleotide variantPathogenicrs137854467GRCh37Chr 15, 48892414: 48892414
31FBN1NM_000138.4(FBN1): c.3379G> A (p.Gly1127Ser)single nucleotide variantPathogenicrs137854468GRCh37Chr 15, 48779593: 48779593
32FBN1NM_000138.4(FBN1): c.3668G> A (p.Cys1223Tyr)single nucleotide variantPathogenicrs137854469GRCh37Chr 15, 48777615: 48777615
33FBN1FBN1, 1-BP DEL, 3192AdeletionPathogenic
34FBN1NM_000138.4(FBN1): c.6354C> T (p.Ile2118=)single nucleotide variantLikely pathogenic, Pathogenicrs112989722GRCh37Chr 15, 48729544: 48729544
35FBN1NM_000138.4(FBN1): c.3793T> C (p.Cys1265Arg)single nucleotide variantPathogenicrs137854474GRCh37Chr 15, 48776060: 48776060
36FBN1NM_000138.4(FBN1): c.3509G> A (p.Arg1170His)single nucleotide variantPathogenicrs137854475GRCh37Chr 15, 48779352: 48779352
37FBN1NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter)single nucleotide variantPathogenicrs137854476GRCh37Chr 15, 48805749: 48805749
38FBN1FBN1, IVS2DS, G-A, +1single nucleotide variantPathogenic
39FBN1NM_000138.4(FBN1): c.3037G> C (p.Gly1013Arg)single nucleotide variantPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
40FBN1FBN1, 33-BP INS, IVS46, G-A, +1insertionPathogenic
41FBN1FBN1, IVS46+5G-Asingle nucleotide variantPathogenic
42FBN1NM_000138.4(FBN1): c.2261A> G (p.Tyr754Cys)single nucleotide variantPathogenicrs137854479GRCh37Chr 15, 48789495: 48789495
43FBN1NM_000138.4(FBN1): c.718C> T (p.Arg240Cys)single nucleotide variantPathogenicrs137854480GRCh37Chr 15, 48829826: 48829826
44FBN1NM_000138.4(FBN1): c.3386G> A (p.Cys1129Tyr)single nucleotide variantPathogenicrs137854482GRCh37Chr 15, 48779586: 48779586
45FBN1NM_000138.4(FBN1): c.3662G> A (p.Cys1221Tyr)single nucleotide variantPathogenicrs137854483GRCh37Chr 15, 48777621: 48777621
46FBN1FBN1, 302.5-KB DELdeletionPathogenic
47FBN1FBN1, EX13-49DELdeletionPathogenic
48FBN1NM_000138.4(FBN1): c.3037G> A (p.Gly1013Arg)single nucleotide variantPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
49FBN1NM_000138.4(FBN1): c.5888delA (p.Glu1963Glyfs)deletionLikely pathogenicrs727504315GRCh37Chr 15, 48737602: 48737602
50FBN1NM_000138.4(FBN1): c.5066delA (p.Asp1689Valfs)deletionLikely pathogenicrs727504347GRCh37Chr 15, 48755437: 48755437
51FBN1NM_000138.4(FBN1): c.6886C> T (p.Gln2296Ter)single nucleotide variantLikely pathogenicrs727504410GRCh37Chr 15, 48720654: 48720654
52FBN1NM_000138.4(FBN1): c.3546C> A (p.Cys1182Ter)single nucleotide variantPathogenicrs727504411GRCh38Chr 15, 48487118: 48487118
53FBN1NM_000138.4(FBN1): c.7540G> A (p.Gly2514Arg)single nucleotide variantLikely pathogenicrs363811GRCh37Chr 15, 48714179: 48714179
54FBN1NM_000138.4(FBN1): c.8473_8475delGGA (p.Gly2825del)deletionPathogenicrs727504454GRCh37Chr 15, 48703328: 48703330
55FBN1NM_000138.4(FBN1): c.8265_8266delTTinsAGGA (p.Ser2755Argfs)indelPathogenicrs727504651GRCh37Chr 15, 48703537: 48703538
56FBN1NM_000138.4(FBN1): c.3589G> C (p.Asp1197His)single nucleotide variantLikely pathogenicrs397515793GRCh37Chr 15, 48779272: 48779272
57FBN1NM_000138.4(FBN1): c.1335dupG (p.Pro446Alafs)duplicationPathogenicrs730880356GRCh37Chr 15, 48807717: 48807717
58FBN1NM_000138.4(FBN1): c.3373C> T (p.Arg1125Ter)single nucleotide variantPathogenicrs727505006GRCh38Chr 15, 48487402: 48487402
59FBN1NM_000138.4(FBN1): c.2942G> C (p.Cys981Ser)single nucleotide variantLikely pathogenicrs727505110GRCh37Chr 15, 48782188: 48782188
60FBN1NM_000138.4(FBN1): c.660delC (p.Cys221Valfs)deletionPathogenicrs727505269GRCh37Chr 15, 48829884: 48829884
61FBN1NM_000138.4(FBN1): c.6354C> G (p.Ile2118Met)single nucleotide variantLikely pathogenicrs112989722GRCh38Chr 15, 48437347: 48437347
62FBN1NM_000138.4(FBN1): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs730880097GRCh38Chr 15, 48644769: 48644769
63FBN1NM_000138.4(FBN1): c.281G> T (p.Cys94Phe)single nucleotide variantLikely pathogenicrs730880098GRCh38Chr 15, 48610793: 48610793
64FBN1NM_000138.4(FBN1): c.1285C> T (p.Arg429Ter)single nucleotide variantPathogenicrs112645512GRCh37Chr 15, 48808422: 48808422
65FBN1NM_000138.4(FBN1): c.1633C> T (p.Arg545Cys)single nucleotide variantPathogenicrs730880099GRCh38Chr 15, 48510125: 48510125
66FBN1NM_000138.4(FBN1): c.3131G> A (p.Cys1044Tyr)single nucleotide variantLikely pathogenicrs730880100GRCh38Chr 15, 48488445: 48488445
67FBN1NM_000138.4(FBN1): c.4453T> C (p.Cys1485Arg)single nucleotide variantLikely pathogenicrs730880101GRCh38Chr 15, 48470640: 48470640
68FBN1NM_000138.4(FBN1): c.5280T> A (p.Tyr1760Ter)single nucleotide variantLikely pathogenicrs730880103GRCh38Chr 15, 48460262: 48460262
69FBN1NM_000138.4(FBN1): c.5861T> G (p.Phe1954Cys)single nucleotide variantLikely pathogenicrs730880104GRCh38Chr 15, 48445432: 48445432
70FBN1NM_000138.4(FBN1): c.2113+2T> Csingle nucleotide variantLikely pathogenicrs730880105GRCh38Chr 15, 48503785: 48503785
71FBN1NM_000138.4(FBN1): c.4210+1G> Asingle nucleotide variantLikely pathogenicrs730880106GRCh38Chr 15, 48474254: 48474254
72FBN1NM_000138.4(FBN1): c.6739+2T> Asingle nucleotide variantLikely pathogenicrs730880107GRCh38Chr 15, 48432864: 48432864
73FBN1NM_000138.4(FBN1): c.320_321delTA (p.Ile107Serfs)deletionLikely pathogenicrs730880108GRCh37Chr 15, 48902950: 48902951
74FBN1NM_000138.4(FBN1): c.4337-1_4337delinsTAindelLikely pathogenicGRCh38Chr 15, 48470756: 48470757
75FBN1NM_000138.4(FBN1): c.2861G> A (p.Arg954His)single nucleotide variantLikely pathogenic, Pathogenicrs794728198GRCh38Chr 15, 48490072: 48490072
76FBN1NM_000138.4(FBN1): c.7039_7040delAT (p.Met2347Valfs)deletionPathogenicrs794728319GRCh38Chr 15, 48427731: 48427732
77FBN1NM_000138.4(FBN1): c.338C> G (p.Ser113Cys)single nucleotide variantLikely pathogenicrs869025403GRCh38Chr 15, 48610736: 48610736
78FBN1NM_000138.4(FBN1): c.1909T> C (p.Cys637Arg)single nucleotide variantLikely pathogenicrs869025404GRCh38Chr 15, 48505076: 48505076
79FBN1NM_000138.4(FBN1): c.2695G> A (p.Gly899Arg)single nucleotide variantLikely pathogenicrs869025405GRCh38Chr 15, 48494237: 48494237
80FBN1NM_000138.4(FBN1): c.4815A> G (p.Glu1605=)single nucleotide variantLikely pathogenicrs869025408GRCh38Chr 15, 48465791: 48465791
81FBN1NM_000138.4(FBN1): c.6694T> C (p.Cys2232Arg)single nucleotide variantLikely pathogenicrs869025411GRCh38Chr 15, 48432911: 48432911
82FBN1NM_000138.4(FBN1): c.6820T> C (p.Cys2274Arg)single nucleotide variantLikely pathogenicrs869025412GRCh37Chr 15, 48722919: 48722919
83FBN1NM_000138.4(FBN1): c.6865T> C (p.Cys2289Arg)single nucleotide variantLikely pathogenicrs869025413GRCh37Chr 15, 48722874: 48722874
84FBN1NM_000138.4(FBN1): c.7141C> T (p.Gln2381Ter)single nucleotide variantLikely pathogenicrs869025414GRCh38Chr 15, 48427630: 48427630
85FBN1NM_000138.4(FBN1): c.7421A> G (p.Tyr2474Cys)single nucleotide variantLikely pathogenicrs869025415GRCh37Chr 15, 48717598: 48717598
86FBN1NM_000138.4(FBN1): c.7769G> A (p.Cys2590Tyr)single nucleotide variantLikely pathogenicrs869025416GRCh37Chr 15, 48712934: 48712934
87FBN1NM_000138.4(FBN1): c.8148C> G (p.Tyr2716Ter)single nucleotide variantLikely pathogenicrs112642323GRCh37Chr 15, 48704844: 48704844
88FBN1NM_000138.4(FBN1): c.8339T> C (p.Leu2780Pro)single nucleotide variantLikely pathogenicrs869025417GRCh37Chr 15, 48703464: 48703464
89FBN1NM_000138.4(FBN1): c.5918-2A> Gsingle nucleotide variantLikely pathogenicrs869025418GRCh37Chr 15, 48736859: 48736859
90FBN1NM_000138.4(FBN1): c.6739+1G> Asingle nucleotide variantLikely pathogenicrs869025419GRCh38Chr 15, 48432865: 48432865
91FBN1NM_000138.4(FBN1): c.1744_1745delTG (p.Cys582Profs)deletionLikely pathogenicrs869025420GRCh38Chr 15, 48508674: 48508675
92FBN1NM_000138.4(FBN1): c.4197delC (p.Phe1400Serfs)deletionLikely pathogenicrs869025421GRCh38Chr 15, 48474268: 48474268
93FBN1NM_000138.4(FBN1): c.7109delG (p.Gly2370Alafs)deletionLikely pathogenicrs869025422GRCh37Chr 15, 48719859: 48719859
94FBN1NM_000138.4(FBN1): c.7151_7152delTG (p.Val2384Glyfs)deletionLikely pathogenicrs869025423GRCh37Chr 15, 48719816: 48719817
95FBN1NM_000138.4(FBN1): c.7259delA (p.Asn2420Metfs)deletionLikely pathogenicrs869025424GRCh37Chr 15, 48718007: 48718007
96FBN1NM_000138.4(FBN1): c.3893dupA (p.Asn1298Lysfs)duplicationLikely pathogenicrs869025425GRCh37Chr 15, 48773923: 48773923
97FBN1NM_000138.4(FBN1): c.5016dupT (p.Ile1673Tyrfs)duplicationLikely pathogenicrs869025426GRCh37Chr 15, 48756145: 48756145
98FBN1NM_000138.4(FBN1): c.1211delC (p.Pro404Hisfs)deletionLikely pathogenicrs112289537GRCh37Chr 15, 48808496: 48808496
99FBN1NM_000138.4(FBN1): c.1634G> A (p.Arg545His)single nucleotide variantLikely pathogenicrs193922179GRCh37Chr 15, 48802321: 48802321
100FBN1NM_000138.4(FBN1): c.1669_1677dupTGTAATGCG (p.Ala559_Gly560insCysAsnAla)duplicationLikely pathogenicrs193922181GRCh37Chr 15, 48802278: 48802286
101FBN1NM_000138.4(FBN1): c.1709delG (p.Cys570Leufs)deletionLikely pathogenicrs193922182GRCh37Chr 15, 48802246: 48802246
102FBN1NM_000138.4(FBN1): c.1710T> A (p.Cys570Ter)single nucleotide variantLikely pathogenicrs193922183GRCh37Chr 15, 48802245: 48802245
103FBN1NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys)single nucleotide variantLikely pathogenicrs193922185GRCh37Chr 15, 48797234: 48797234
104FBN1NM_000138.4(FBN1): c.2055C> G (p.Cys685Trp)single nucleotide variantPathogenicrs140603GRCh37Chr 15, 48796042: 48796042
105FBN1NM_000138.4(FBN1): c.2057C> A (p.Ala686Asp)single nucleotide variantLikely pathogenicrs193922186GRCh37Chr 15, 48796040: 48796040
106FBN1NM_000138.4(FBN1): c.2186delT (p.Leu729Glnfs)deletionLikely pathogenicrs193922187GRCh37Chr 15, 48789570: 48789570
107FBN1NM_000138.4(FBN1): c.2369G> C (p.Cys790Ser)single nucleotide variantLikely pathogenicrs193922188GRCh37Chr 15, 48788347: 48788347
108FBN1NM_000138.4(FBN1): c.2433C> A (p.Cys811Ter)single nucleotide variantLikely pathogenicrs193921256GRCh37Chr 15, 48787772: 48787772
109FBN1NM_000138.4(FBN1): c.2479T> C (p.Ser827Pro)single nucleotide variantLikely pathogenicrs193922189GRCh37Chr 15, 48787726: 48787726
110FBN1NM_000138.4(FBN1): c.2508T> A (p.Ser836Arg)single nucleotide variantLikely pathogenicrs193922190GRCh37Chr 15, 48787697: 48787697
111FBN1NM_000138.4(FBN1): c.2542A> C (p.Thr848Pro)single nucleotide variantLikely pathogenicrs193922191GRCh37Chr 15, 48787455: 48787455
112FBN1NM_000138.4(FBN1): c.266G> C (p.Cys89Ser)single nucleotide variantLikely pathogenicrs112660651GRCh37Chr 15, 48903005: 48903005
113FBN1NM_000138.4(FBN1): c.2677G> C (p.Asp893His)single nucleotide variantLikely pathogenicrs193922193GRCh37Chr 15, 48787320: 48787320
114FBN1NM_000138.4(FBN1): c.2682delC (p.Ile895Tyrfs)deletionLikely pathogenicrs193922194GRCh37Chr 15, 48786447: 48786447
115FBN1NM_000138.4(FBN1): c.2855-1G> Csingle nucleotide variantLikely pathogenicrs112202622GRCh37Chr 15, 48782276: 48782276
116FBN1NM_000138.4(FBN1): c.3026C> G (p.Pro1009Arg)single nucleotide variantLikely pathogenicrs148076256GRCh37Chr 15, 48782104: 48782104
117FBN1NM_000138.4(FBN1): c.3140_3141delCC (p.Thr1047Asnfs)deletionLikely pathogenicrs193922197GRCh37Chr 15, 48780632: 48780633
118FBN1NM_000138.4(FBN1): c.3193delG (p.Glu1065Lysfs)deletionLikely pathogenicrs193922198GRCh37Chr 15, 48780580: 48780580
119FBN1NM_000138.4(FBN1): c.3478G> T (p.Glu1160Ter)single nucleotide variantLikely pathogenicrs193922199GRCh37Chr 15, 48779383: 48779383
120FBN1NM_000138.4(FBN1): c.4165T> G (p.Cys1389Gly)single nucleotide variantLikely pathogenicrs193922203GRCh37Chr 15, 48766497: 48766497
121FBN1NM_000138.4(FBN1): c.4460-8G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs193922204GRCh37Chr 15, 48760739: 48760739
122FBN1NM_000138.4(FBN1): c.4467T> A (p.Asn1489Lys)single nucleotide variantLikely pathogenicrs193922205GRCh37Chr 15, 48760724: 48760724
123FBN1NM_000138.4(FBN1): c.454A> T (p.Ser152Cys)single nucleotide variantLikely pathogenicrs193922206GRCh37Chr 15, 48888564: 48888564
124FBN1NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys)single nucleotide variantPathogenicrs111401431GRCh37Chr 15, 48760294: 48760294
125FBN1NM_000138.4(FBN1): c.4684T> A (p.Cys1562Ser)single nucleotide variantLikely pathogenicrs193922207GRCh37Chr 15, 48760198: 48760198
126FBN1NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter)single nucleotide variantPathogenicrs113871094GRCh37Chr 15, 48758017: 48758017
127FBN1NM_000138.4(FBN1): c.484G> A (p.Ala162Thr)single nucleotide variantLikely pathogenicrs193922210GRCh37Chr 15, 48888534: 48888534
128FBN1NM_000138.4(FBN1): c.510C> G (p.Tyr170Ter)single nucleotide variantLikely pathogenicrs111671429GRCh37Chr 15, 48888508: 48888508
129FBN1NM_000138.4(FBN1): c.5521_5528delTTCACCTC (p.Phe1841Hisfs)deletionLikely pathogenicrs193922212GRCh37Chr 15, 48744776: 48744783
130FBN1NM_000138.4(FBN1): c.5552A> G (p.Asn1851Ser)single nucleotide variantLikely pathogenicrs193922214GRCh37Chr 15, 48741084: 48741084
131FBN1NM_000138.4(FBN1): c.556T> C (p.Cys186Arg)single nucleotide variantLikely pathogenicrs193922215GRCh37Chr 15, 48829988: 48829988
132FBN1NM_000138.4(FBN1): c.5671G> C (p.Asp1891His)single nucleotide variantLikely pathogenicrs193922216GRCh37Chr 15, 48740965: 48740965
133FBN1NM_000138.4(FBN1): c.56C> T (p.Ser19Phe)single nucleotide variantLikely pathogenicrs193922218GRCh37Chr 15, 48936911: 48936911
134FBN1NM_000138.4(FBN1): c.6006_6012dupTGGATAC (p.Ser2005Trpfs)duplicationLikely pathogenicrs193922220GRCh37Chr 15, 48736763: 48736769
135FBN1NM_000138.4(FBN1): c.6385G> T (p.Asp2129Tyr)single nucleotide variantLikely pathogenicrs193922223GRCh37Chr 15, 48729269: 48729269
136FBN1NM_000138.4(FBN1): c.649T> G (p.Trp217Gly)single nucleotide variantLikely pathogenicrs193922224GRCh37Chr 15, 48829895: 48829895
137FBN1NM_000138.4(FBN1): c.6553_6556dupATTG (p.Gly2186Aspfs)duplicationLikely pathogenicrs193922225GRCh37Chr 15, 48726851: 48726854
138FBN1NM_000138.4(FBN1): c.6704delG (p.Gly2235Aspfs)deletionLikely pathogenicrs193922226GRCh37Chr 15, 48725098: 48725098
139FBN1NM_000138.4(FBN1): c.6793_6800dupTGCAAGAA (p.Leu2268Alafs)duplicationLikely pathogenicrs193922227GRCh37Chr 15, 48722939: 48722946
140FBN1NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr)single nucleotide variantLikely pathogenicrs193922228GRCh37Chr 15, 48722933: 48722933
141FBN1NM_000138.4(FBN1): c.6970G> A (p.Ala2324Thr)single nucleotide variantLikely pathogenicrs148831709GRCh37Chr 15, 48720570: 48720570
142FBN1NM_000138.4(FBN1): c.7072G> A (p.Val2358Ile)single nucleotide variantLikely pathogenicrs140537304GRCh37Chr 15, 48719896: 48719896
143FBN1NM_000138.4(FBN1): c.7229A> C (p.His2410Pro)single nucleotide variantLikely pathogenicrs193922230GRCh37Chr 15, 48718037: 48718037
144FBN1NM_000138.4(FBN1): c.7412C> G (p.Pro2471Arg)single nucleotide variantLikely pathogenicrs193922233GRCh37Chr 15, 48717607: 48717607
145FBN1NM_000138.4(FBN1): c.7666T> G (p.Phe2556Val)single nucleotide variantLikely pathogenicrs193922234GRCh37Chr 15, 48713788: 48713788
146FBN1NM_000138.4(FBN1): c.7678delC (p.Gln2560Argfs)deletionLikely pathogenicrs193922235GRCh37Chr 15, 48713776: 48713776
147FBN1NM_000138.4(FBN1): c.7726C> T (p.Arg2576Cys)single nucleotide variantLikely pathogenic, Pathogenicrs147195031GRCh37Chr 15, 48712977: 48712977
148FBN1NM_000138.4(FBN1): c.7806G> A (p.Trp2602Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922236GRCh37Chr 15, 48712897: 48712897
149FBN1NM_000138.4(FBN1): c.7879G> A (p.Gly2627Arg)single nucleotide variantLikely pathogenicrs193922239GRCh37Chr 15, 48707905: 48707905
150FBN1NM_000138.4(FBN1): c.7898G> C (p.Cys2633Ser)single nucleotide variantLikely pathogenicrs193922240GRCh37Chr 15, 48707886: 48707886
151FBN1NM_000138.4(FBN1): c.7999G> A (p.Glu2667Lys)single nucleotide variantLikely pathogenicrs149062442GRCh37Chr 15, 48707785: 48707785
152FBN1NM_000138.4(FBN1): c.8203delG (p.Glu2735Lysfs)deletionLikely pathogenicrs193922241GRCh37Chr 15, 48704789: 48704789
153FBN1NM_000138.4(FBN1): c.83A> G (p.Asn28Ser)single nucleotide variantLikely pathogenicrs193922245GRCh37Chr 15, 48936884: 48936884
154FBN1NM_000138.4(FBN1): c.8412_8417delTAAAAT (p.Lys2805_Ile2806del)deletionLikely pathogenicrs193922246GRCh37Chr 15, 48703386: 48703391
155FBN1NM_000138.4(FBN1): c.2920C> T (p.Arg974Cys)single nucleotide variantPathogenicrs397514558GRCh37Chr 15, 48782210: 48782210
156FBN1NM_000138.4(FBN1): c.4253_4259delGCCAGTG (p.Gly1418Alafs)deletionPathogenicrs398122934GRCh37Chr 15, 48764825: 48764831
157FBN1NM_000138.4(FBN1): c.1051C> T (p.Gln351Ter)single nucleotide variantPathogenicrs397515753GRCh37Chr 15, 48812952: 48812952
158FBN1NM_000138.4(FBN1): c.1192A> T (p.Arg398Ter)single nucleotide variantPathogenicrs397515754GRCh37Chr 15, 48808515: 48808515
159FBN1NM_000138.4(FBN1): c.1095C> A (p.Cys365Ter)single nucleotide variantLikely pathogenicrs397515755GRCh37Chr 15, 48812908: 48812908
160FBN1NM_000138.4(FBN1): c.1148-2A> Gsingle nucleotide variantPathogenicrs397515756GRCh37Chr 15, 48808561: 48808561
161FBN1NM_000138.4(FBN1): c.1468+5G> Asingle nucleotide variantPathogenicrs397515757GRCh37Chr 15, 48807579: 48807579
162FBN1NM_000138.4(FBN1): c.1546C> T (p.Arg516Ter)single nucleotide variantPathogenicrs113812345GRCh37Chr 15, 48805788: 48805788
163FBN1NM_000138.4(FBN1): c.1561_1562delAG (p.Ser521Hisfs)deletionLikely pathogenicrs397515758GRCh37Chr 15, 48805772: 48805773
164FBN1NM_000138.4(FBN1): c.1601G> A (p.Cys534Tyr)single nucleotide variantLikely pathogenicrs397515759GRCh37Chr 15, 48802354: 48802354
165FBN1NM_000138.4(FBN1): c.1837+1G> Tsingle nucleotide variantLikely pathogenicrs397515762GRCh37Chr 15, 48800778: 48800778
166FBN1NM_000138.4(FBN1): c.184C> T (p.Arg62Cys)single nucleotide variantPathogenicrs25403GRCh37Chr 15, 48905270: 48905270
167FBN1NM_000138.4(FBN1): c.185G> A (p.Arg62His)single nucleotide variantLikely pathogenicrs145942328GRCh37Chr 15, 48905269: 48905269
168FBN1NM_000138.4(FBN1): c.2242T> C (p.Cys748Arg)single nucleotide variantLikely pathogenicrs397515765GRCh37Chr 15, 48789514: 48789514
169FBN1NM_000138.4(FBN1): c.2341T> C (p.Cys781Arg)single nucleotide variantPathogenicrs397515766GRCh37Chr 15, 48788375: 48788375
170FBN1NM_000138.4(FBN1): c.239G> A (p.Cys80Tyr)single nucleotide variantLikely pathogenicrs397515767GRCh37Chr 15, 48905215: 48905215
171FBN1NM_000138.4(FBN1): c.2407A> T (p.Lys803Ter)single nucleotide variantPathogenicrs397515768GRCh37Chr 15, 48788309: 48788309
172FBN1NM_000138.4(FBN1): c.2412_2413delAT (p.Cys805Terfs)deletionPathogenicrs397515769GRCh37Chr 15, 48788303: 48788304
173FBN1NM_000138.4(FBN1): c.2447G> C (p.Cys816Ser)single nucleotide variantLikely pathogenicrs397515770GRCh37Chr 15, 48787758: 48787758
174FBN1NM_000138.4(FBN1): c.2448C> G (p.Cys816Trp)single nucleotide variantLikely pathogenicrs397515771GRCh37Chr 15, 48787757: 48787757
175FBN1NM_000138.4(FBN1): c.247+1G> Asingle nucleotide variantPathogenicrs25404GRCh37Chr 15, 48905206: 48905206
176FBN1NM_000138.4(FBN1): c.2488T> G (p.Cys830Gly)single nucleotide variantLikely pathogenicrs397515773GRCh37Chr 15, 48787717: 48787717
177FBN1NM_000138.4(FBN1): c.2489G> C (p.Cys830Ser)single nucleotide variantLikely pathogenicrs397515774GRCh37Chr 15, 48787716: 48787716
178FBN1NM_000138.4(FBN1): c.2495G> A (p.Cys832Tyr)single nucleotide variantLikely pathogenicrs397515775GRCh37Chr 15, 48787710: 48787710
179FBN1NM_000138.4(FBN1): c.2496T> G (p.Cys832Trp)single nucleotide variantLikely pathogenicrs397515776GRCh37Chr 15, 48787709: 48787709
180FBN1NM_000138.4(FBN1): c.268_269delGGinsC (p.Gly90Argfs)indelLikely pathogenicrs397515778GRCh37Chr 15, 48903002: 48903003
181FBN1NM_000138.4(FBN1): c.2691dupT (p.Lys898Terfs)duplicationLikely pathogenicrs397515779GRCh37Chr 15, 48786438: 48786438
182FBN1NM_000138.4(FBN1): c.2833delG (p.Ala945Profs)deletionLikely pathogenicrs397515781GRCh37Chr 15, 48784679: 48784679
183FBN1NM_000138.4(FBN1): c.2855-1G> Asingle nucleotide variantPathogenicrs112202622GRCh37Chr 15, 48782276: 48782276
184FBN1NM_000138.4(FBN1): c.2927G> A (p.Arg976His)single nucleotide variantLikely pathogenicrs140954477GRCh37Chr 15, 48782203: 48782203
185FBN1NM_000138.4(FBN1): c.299G> T (p.Cys100Phe)single nucleotide variantLikely pathogenicrs397515782GRCh37Chr 15, 48902972: 48902972
186FBN1NM_000138.4(FBN1): c.3012C> G (p.Tyr1004Ter)single nucleotide variantLikely pathogenicrs397515784GRCh37Chr 15, 48782118: 48782118
187FBN1NM_000138.4(FBN1): c.32_42delTGGGATTTACC (p.Leu11Argfs)deletionLikely pathogenicrs397515785GRCh37Chr 15, 48936925: 48936935
188FBN1NM_000138.4(FBN1): c.3164G> A (p.Cys1055Tyr)single nucleotide variantPathogenicrs397515786GRCh37Chr 15, 48780609: 48780609
189FBN1NM_000138.4(FBN1): c.3274delG (p.Asp1092Thrfs)deletionPathogenicrs397515788GRCh37Chr 15, 48780373: 48780373
190FBN1NM_000138.4(FBN1): c.3337+1G> Asingle nucleotide variantLikely pathogenicrs397515789GRCh37Chr 15, 48780309: 48780309
191FBN1NM_000138.4(FBN1): c.3392A> G (p.Asn1131Ser)single nucleotide variantLikely pathogenicrs397515790GRCh37Chr 15, 48779580: 48779580
192FBN1NM_000138.4(FBN1): c.3413G> T (p.Cys1138Phe)single nucleotide variantLikely pathogenicrs397515791GRCh37Chr 15, 48779559: 48779559
193FBN1NM_000138.4(FBN1): c.3463+1G> Tsingle nucleotide variantPathogenicrs397515792GRCh37Chr 15, 48779508: 48779508
194FBN1NM_000138.4(FBN1): c.368G> A (p.Cys123Tyr)single nucleotide variantPathogenicrs397515794GRCh37Chr 15, 48892410: 48892410
195FBN1NM_000138.4(FBN1): c.3848A> C (p.Glu1283Ala)single nucleotide variantLikely pathogenicrs397515796GRCh37Chr 15, 48773968: 48773968
196FBN1NM_000138.4(FBN1): c.3886T> C (p.Cys1296Arg)single nucleotide variantLikely pathogenicrs397515797GRCh37Chr 15, 48773930: 48773930
197FBN1NM_000138.4(FBN1): c.4001G> A (p.Gly1334Asp)single nucleotide variantLikely pathogenicrs191989961GRCh37Chr 15, 48766811: 48766811
198FBN1NM_000138.4(FBN1): c.4016G> C (p.Cys1339Ser)single nucleotide variantLikely pathogenicrs397515798GRCh37Chr 15, 48766796: 48766796
199FBN1NM_000138.4(FBN1): c.4048T> A (p.Cys1350Ser)single nucleotide variantLikely pathogenicrs397515799GRCh37Chr 15, 48766764: 48766764
200FBN1NM_000138.4(FBN1): c.4160A> G (p.Tyr1387Cys)single nucleotide variantLikely pathogenicrs397515801GRCh37Chr 15, 48766502: 48766502
201FBN1NM_000138.4(FBN1): c.4222T> C (p.Cys1408Arg)single nucleotide variantPathogenicrs397515802GRCh37Chr 15, 48764862: 48764862
202FBN1NM_000138.4(FBN1): c.4251_4259delTGGCCAGTG (p.Gly1418_Cys1420del)deletionLikely pathogenicrs397515803GRCh37Chr 15, 48764825: 48764833
203FBN1NM_000138.4(FBN1): c.4259G> A (p.Cys1420Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397515804GRCh37Chr 15, 48764825: 48764825
204FBN1NM_000138.4(FBN1): c.4270C> G (p.Pro1424Ala)single nucleotide variantPathogenicrs201273753GRCh37Chr 15, 48764814: 48764814
205FBN1NM_000138.4(FBN1): c.4367G> A (p.Cys1456Tyr)single nucleotide variantLikely pathogenicrs397515805GRCh37Chr 15, 48762923: 48762923
206FBN1NM_000138.4(FBN1): c.4364T> G (p.Ile1455Ser)single nucleotide variantLikely pathogenicrs397515807GRCh37Chr 15, 48762926: 48762926
207FBN1NM_000138.4(FBN1): c.4367G> C (p.Cys1456Ser)single nucleotide variantPathogenicrs397515805GRCh37Chr 15, 48762923: 48762923
208FBN1NM_000138.4(FBN1): c.4406G> C (p.Arg1469Pro)single nucleotide variantLikely pathogenicrs397515808GRCh37Chr 15, 48762884: 48762884
209FBN1NM_000138.4(FBN1): c.4505G> A (p.Cys1502Tyr)single nucleotide variantLikely pathogenicrs397515810GRCh37Chr 15, 48760686: 48760686
210FBN1NM_000138.4(FBN1): c.4531T> C (p.Cys1511Arg)single nucleotide variantLikely pathogenicrs397515811GRCh37Chr 15, 48760660: 48760660
211FBN1NM_000138.4(FBN1): c.4567C> T (p.Arg1523Ter)single nucleotide variantLikely pathogenicrs397515812GRCh37Chr 15, 48760624: 48760624
212FBN1NM_000138.4(FBN1): c.4615C> T (p.Arg1539Ter)single nucleotide variantPathogenicrs111231312GRCh37Chr 15, 48760267: 48760267
213FBN1NM_000138.4(FBN1): c.4781G> A (p.Gly1594Asp)single nucleotide variantLikely pathogenic, Pathogenicrs267606798GRCh37Chr 15, 48758022: 48758022
214FBN1NM_000138.4(FBN1): c.4937G> A (p.Cys1646Tyr)single nucleotide variantLikely pathogenicrs397515814GRCh37Chr 15, 48757770: 48757770
215FBN1NM_000138.4(FBN1): c.493C> T (p.Arg165Ter)single nucleotide variantPathogenicrs113905529GRCh37Chr 15, 48888525: 48888525
216FBN1NM_000138.4(FBN1): c.4942G> A (p.Asp1648Asn)single nucleotide variantLikely pathogenicrs397515816GRCh37Chr 15, 48757765: 48757765
217FBN1NM_000138.4(FBN1): c.4955G> A (p.Cys1652Tyr)single nucleotide variantPathogenicrs397515817GRCh37Chr 15, 48756206: 48756206
218FBN1NM_000138.4(FBN1): c.497G> C (p.Cys166Ser)single nucleotide variantLikely pathogenicrs397515818GRCh37Chr 15, 48888521: 48888521
219FBN1NM_000138.4(FBN1): c.5066-1G> Csingle nucleotide variantPathogenicrs397515819GRCh37Chr 15, 48755438: 48755438
220FBN1NM_000138.4(FBN1): c.5251C> T (p.Gln1751Ter)single nucleotide variantLikely pathogenicrs397515820GRCh37Chr 15, 48752488: 48752488
221FBN1NM_000138.4(FBN1): c.529T> C (p.Cys177Arg)single nucleotide variantLikely pathogenicrs363853GRCh37Chr 15, 48888489: 48888489
222FBN1NM_000138.4(FBN1): c.5368C> T (p.Arg1790Ter)single nucleotide variantPathogenicrs113249837GRCh37Chr 15, 48748888: 48748888
223FBN1NM_000138.4(FBN1): c.5437C> T (p.Gln1813Ter)single nucleotide variantLikely pathogenicrs397515821GRCh37Chr 15, 48744867: 48744867
224FBN1NM_000138.4(FBN1): c.5504G> A (p.Cys1835Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs111929350GRCh37Chr 15, 48744800: 48744800
225FBN1NM_000138.4(FBN1): c.5512G> T (p.Gly1838Cys)single nucleotide variantPathogenicrs397515823GRCh37Chr 15, 48744792: 48744792
226FBN1NM_000138.4(FBN1): c.5588G> A (p.Gly1863Glu)single nucleotide variantLikely pathogenicrs113086760GRCh37Chr 15, 48741048: 48741048
227FBN1NM_000138.4(FBN1): c.561delT (p.Phe187Leufs)deletionLikely pathogenicrs397515825GRCh37Chr 15, 48829983: 48829983
228FBN1NM_000138.4(FBN1): c.5721C> G (p.Asn1907Lys)single nucleotide variantLikely pathogenicrs397515826GRCh37Chr 15, 48738970: 48738970
229FBN1NM_000138.4(FBN1): c.5747G> A (p.Cys1916Tyr)single nucleotide variantLikely pathogenicrs397515827GRCh37Chr 15, 48738944: 48738944
230FBN1NM_000138.4(FBN1): c.5863C> T (p.Gln1955Ter)single nucleotide variantPathogenicrs363807GRCh37Chr 15, 48737627: 48737627
231FBN1NM_000138.4(FBN1): c.5788+5G> Asingle nucleotide variantPathogenicrs193922219GRCh37Chr 15, 48738898: 48738898
232FBN1NM_000138.4(FBN1): c.5840G> A (p.Cys1947Tyr)single nucleotide variantLikely pathogenicrs397515828GRCh37Chr 15, 48737650: 48737650
233FBN1NM_000138.4(FBN1): c.5869C> T (p.Gln1957Ter)single nucleotide variantLikely pathogenicrs397515829GRCh37Chr 15, 48737621: 48737621
234FBN1NM_000138.4(FBN1): c.6119G> A (p.Cys2040Tyr)single nucleotide variantLikely pathogenicrs397515830GRCh37Chr 15, 48733962: 48733962
235FBN1NM_000138.4(FBN1): c.6289G> T (p.Glu2097Ter)single nucleotide variantLikely pathogenicrs397515831GRCh37Chr 15, 48729989: 48729989
236FBN1NM_000138.4(FBN1): c.6379+1G> Asingle nucleotide variantLikely pathogenicrs397515833GRCh37Chr 15, 48729518: 48729518
237FBN1NM_000138.4(FBN1): c.643C> T (p.Arg215Ter)single nucleotide variantPathogenicrs111687884GRCh37Chr 15, 48829901: 48829901
238FBN1NM_000138.4(FBN1): c.6515_6516delTTinsG (p.Val2172Glyfs)indelLikely pathogenicrs397515834GRCh37Chr 15, 48726891: 48726892
239FBN1NM_000138.4(FBN1): c.6617-9_6617-8delinsAGindelLikely pathogenicrs397515835GRCh37Chr 15, 48725193: 48725194
240FBN1NM_000138.4(FBN1): c.6630T> G (p.Cys2210Trp)single nucleotide variantLikely pathogenicrs397515836GRCh37Chr 15, 48725172: 48725172
241FBN1NM_000138.4(FBN1): c.6656T> C (p.Phe2219Ser)single nucleotide variantLikely pathogenicrs397515837GRCh37Chr 15, 48725146: 48725146
242FBN1NM_000138.4(FBN1): c.6658C> T (p.Arg2220Ter)single nucleotide variantLikely pathogenic, Pathogenicrs113001196GRCh37Chr 15, 48725144: 48725144
243FBN1NM_000138.4(FBN1): c.6841C> T (p.Gln2281Ter)single nucleotide variantLikely pathogenicrs397515840GRCh37Chr 15, 48722898: 48722898
244FBN1NM_000138.4(FBN1): c.6920G> A (p.Cys2307Tyr)single nucleotide variantLikely pathogenicrs137854457GRCh37Chr 15, 48720620: 48720620
245FBN1NM_000138.4(FBN1): c.7094G> A (p.Cys2365Tyr)single nucleotide variantLikely pathogenicrs397515845GRCh37Chr 15, 48719874: 48719874
246FBN1NM_000138.4(FBN1): c.7167_7168delCT (p.Cys2390Serfs)deletionPathogenicrs397515846GRCh37Chr 15, 48719800: 48719801
247FBN1NM_000138.4(FBN1): c.7168T> C (p.Cys2390Arg)single nucleotide variantLikely pathogenicrs397515847GRCh37Chr 15, 48719800: 48719800
248FBN1NM_000138.4(FBN1): c.7180C> T (p.Arg2394Ter)single nucleotide variantPathogenicrs397515848GRCh37Chr 15, 48719788: 48719788
249FBN1NM_000138.4(FBN1): c.7453+1G> Tsingle nucleotide variantLikely pathogenicrs397515851GRCh37Chr 15, 48717565: 48717565
250FBN1NM_000138.4(FBN1): c.7497_7498delAT (p.Val2501Terfs)deletionLikely pathogenicrs397515852GRCh37Chr 15, 48714221: 48714222
251FBN1NM_000138.4(FBN1): c.7580A> C (p.Glu2527Ala)single nucleotide variantLikely pathogenicrs397515853GRCh37Chr 15, 48713874: 48713874
252FBN1NM_000138.4(FBN1): c.7606G> A (p.Gly2536Arg)single nucleotide variantPathogenicrs397515854GRCh37Chr 15, 48713848: 48713848
253FBN1NM_000138.4(FBN1): c.7852G> A (p.Gly2618Arg)single nucleotide variantPathogenicrs141133182GRCh37Chr 15, 48707932: 48707932
254FBN1NM_000138.4(FBN1): c.7892G> A (p.Cys2631Tyr)single nucleotide variantLikely pathogenicrs111856492GRCh37Chr 15, 48707892: 48707892
255FBN1NM_000138.4(FBN1): c.7955G> A (p.Cys2652Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397515859GRCh37Chr 15, 48707829: 48707829
256FBN1NM_000138.4(FBN1): c.8267G> A (p.Trp2756Ter)single nucleotide variantPathogenicrs397515861GRCh37Chr 15, 48703536: 48703536
257FBN1NM_000138.4(FBN1): c.8378A> G (p.Tyr2793Cys)single nucleotide variantLikely pathogenicrs397515863GRCh37Chr 15, 48703425: 48703425
258FBN1NM_000138.4(FBN1): c.8483C> G (p.Ser2828Ter)single nucleotide variantLikely pathogenicrs397515864GRCh37Chr 15, 48703320: 48703320
259FBN1NM_000138.4(FBN1): c.8600A> C (p.Gln2867Pro)single nucleotide variantLikely pathogenicrs397515865GRCh37Chr 15, 48703203: 48703203
260FBN1NM_000138.4(FBN1): c.8605_8606delTT (p.Leu2869Alafs)deletionLikely pathogenicrs397515866GRCh37Chr 15, 48703197: 48703198
261FBN1NM_000138.4(FBN1): c.958dupT (p.Tyr320Leufs)duplicationPathogenicrs397515867GRCh37Chr 15, 48818357: 48818357
262TGFBR2NM_001024847.2(TGFBR2): c.1546_1557delGTGTTGAGAGAT (p.Val516_Asp519del)deletionLikely pathogenicrs397516493GRCh37Chr 3, 30729950: 30729961

Expression for genes affiliated with Marfan Syndrome

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Search GEO for disease gene expression data for Marfan Syndrome.

Pathways for genes affiliated with Marfan Syndrome

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Pathways related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 34)
idSuper pathwaysScoreTop Affiliating Genes
19.9TGFBR1, TGFBR2
2
Show member pathways
9.3TGFB1, TGFBR1, TGFBR2
39.3TGFB1, TGFBR1, TGFBR2
4
Show member pathways
9.3TGFB1, TGFBR1, TGFBR2
5
Show member pathways
9.3TGFB1, TGFBR1, TGFBR2
69.3TGFB1, TGFBR1, TGFBR2
7
Show member pathways
9.3TGFB1, TGFBR1, TGFBR2
8
Show member pathways
9.3TGFB1, TGFBR1, TGFBR2
99.3TGFB1, TGFBR1, TGFBR2
109.3TGFB1, TGFBR1, TGFBR2
11
Show member pathways
9.3TGFB1, TGFBR1, TGFBR2
12
Show member pathways
9.3TGFB1, TGFBR1, TGFBR2
13
Show member pathways
9.3TGFB1, TGFBR1, TGFBR2
149.3TGFB1, TGFBR1, TGFBR2
159.3TGFB1, TGFBR1, TGFBR2
169.3TGFB1, TGFBR1, TGFBR2
179.3TGFB1, TGFBR1, TGFBR2
189.3TGFB1, TGFBR1, TGFBR2
199.2COL1A2, DCN, MMP2
20
Show member pathways
9.0COL1A2, DCN, MMP2
218.8MMP2, TGFB1, TGFBR1, TGFBR2
228.8MMP2, TGFB1, TGFBR1, TGFBR2
23
Show member pathways
8.8MMP2, TGFB1, TGFBR1, TGFBR2
248.7BMP6, TGFB1, TGFBR1, TGFBR2
25
Show member pathways
8.7ELN, FBN1, FBN2, LTBP2, TGFB1
268.5COL1A2, MMP2, TGFB1, TGFBR1, TGFBR2
27
Show member pathways
8.3COL1A2, MMP2, TGFB1, TGFBR1, TGFBR2
288.1ACTA2, BMP6, DCN, TGFB1
297.9ACTA2, BMP6, TGFB1, TGFBR1, TGFBR2
30
Show member pathways
7.6ACTA2, BMP6, LTBP2, TGFB1, TGFBR1, TGFBR2
31
Show member pathways
7.5COL1A2, DCN, ELN, FBN1, FBN2, LTBP2
32
Show member pathways
6.6ACTA2, COL1A2, ELN, FBN1, FBN2, MMP2
33
Show member pathways
6.6ACTA2, BMP6, COL1A2, ELN, FBN1, FBN2
34
Show member pathways
6.3ACTA2, BMP6, COL1A2, ELN, FBN1, FBN2

GO Terms for genes affiliated with Marfan Syndrome

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Biological processes related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:003558310.6FBN1, FBN2
2common-partner SMAD protein phosphorylationGO:000718210.3TGFB1, TGFBR2
3embryonic cranial skeleton morphogenesisGO:004870110.3TGFBR1, TGFBR2
4digestive tract developmentGO:004856510.1TGFB1, TGFBR2
5myeloid dendritic cell differentiationGO:004301110.1TGFB1, TGFBR2
6epithelial to mesenchymal transitionGO:000183710.0TGFB1, TGFBR1
7lens development in camera-type eyeGO:000208810.0TGFBR1, TGFBR2
8heart developmentGO:000750710.0FBN1, TGFBR1, TGFBR2
9cellular response to transforming growth factor beta stimulusGO:007156010.0ELN, TGFB1
10kidney developmentGO:00018229.9DCN, FBN1, TGFBR1
11pathway-restricted SMAD protein phosphorylationGO:00603899.9TGFB1, TGFBR1, TGFBR2
12collagen catabolic processGO:00305749.9COL1A2, MMP2
13face morphogenesisGO:00603259.9MMP2, TGFB1
14cellular response to amino acid stimulusGO:00712309.8COL1A2, MMP2
15positive regulation of epithelial to mesenchymal transitionGO:00107189.8TGFB1, TGFBR2
16SMAD protein signal transductionGO:00603959.7BMP6, TGFB1
17positive regulation of protein secretionGO:00507149.7BMP6, TGFB1
18positive regulation of bone mineralizationGO:00305019.7BMP6, TGFB1
19cellular response to dexamethasone stimulusGO:00715499.6ELN, TGFB1
20skeletal system developmentGO:00015019.5BMP6, COL1A2, TGFBR1
21positive regulation of SMAD protein import into nucleusGO:00603919.5BMP6, TGFB1, TGFBR1
22positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.4BMP6, TGFB1, TGFBR1
23agingGO:00075689.2DCN, ELN, TGFB1, TGFBR2
24positive regulation of gene expressionGO:00106288.8ACTA2, TGFB1, TGFBR1
25transforming growth factor beta receptor signaling pathwayGO:00071798.8LTBP2, TGFB1, TGFBR1, TGFBR2
26extracellular matrix disassemblyGO:00226178.2COL1A2, DCN, ELN, FBN1, FBN2, MMP2

Molecular functions related to Marfan Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix constituent conferring elasticityGO:00300239.9FBN1, FBN2
2SMAD bindingGO:00463329.9TGFBR1, TGFBR2

Sources for Marfan Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet